PubMed:18470323
Annnotations
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-104 | Sentence | denotes | Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. |
| T2 | 105-113 | Sentence | denotes | PURPOSE: |
| T3 | 114-242 | Sentence | denotes | To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. |
| T4 | 243-251 | Sentence | denotes | METHODS: |
| T5 | 252-395 | Sentence | denotes | Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. |
| T6 | 396-546 | Sentence | denotes | Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I. |
| T7 | 547-690 | Sentence | denotes | Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing. |
| T8 | 691-892 | Sentence | denotes | We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme. |
| T9 | 893-988 | Sentence | denotes | Using this strategy, we analyzed the mutation in six affected and three healthy family members. |
| T10 | 989-997 | Sentence | denotes | RESULTS: |
| T11 | 998-1091 | Sentence | denotes | Three generations of family members were positively diagnosed with lattice corneal dystrophy. |
| T12 | 1092-1169 | Sentence | denotes | Six participants demonstrated LCD1 in both eyes, most of whom were symmetric. |
| T13 | 1170-1225 | Sentence | denotes | Age at onset of symptoms was variable (3-42 years old). |
| T14 | 1226-1364 | Sentence | denotes | Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation. |
| T15 | 1365-1403 | Sentence | denotes | Visual acuity varied from 1.0 to 0.13. |
| T16 | 1404-1542 | Sentence | denotes | Two patients, ages 69 and 44 years old, demonstrated a degree of severity "Bad" according to best-corrected vision and corneal commitment. |
| T17 | 1543-1726 | Sentence | denotes | The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF-induced protein. |
| T18 | 1727-1854 | Sentence | denotes | Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members. |
| T19 | 1855-1867 | Sentence | denotes | CONCLUSIONS: |
| T20 | 1868-1952 | Sentence | denotes | The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family. |
| T21 | 1953-2036 | Sentence | denotes | This is the first report of a molecular analysis of LCD type I in Chilean patients. |
| T22 | 2037-2134 | Sentence | denotes | The early onset affected persons in the fourth generation raises the possibility of anticipation. |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 5076 | 25-57 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | MESH:C537881 |
| 5077 | 63-68 | SequenceVariant | denotes | R124C | DBSNP:rs121909210 |
| 5078 | 85-90 | GeneOrGeneProduct | denotes | TGFBI | NCBIGene:7045 |
| 5079 | 92-97 | GeneOrGeneProduct | denotes | BIGH3 | NCBIGene:7045 |
| 5080 | 182-214 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | MESH:C537881 |
| 5081 | 216-220 | DiseaseOrPhenotypicFeature | denotes | LCDI | MESH:C537881 |
| 5082 | 513-545 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | MESH:C537881 |
| 5083 | 561-600 | GeneOrGeneProduct | denotes | transforming growth factor-induced gene | NCBIGene:7045 |
| 5084 | 602-607 | GeneOrGeneProduct | denotes | TGFBI | NCBIGene:7045 |
| 5085 | 654-659 | SequenceVariant | denotes | R124C | DBSNP:rs121909210 |
| 5086 | 868-872 | GeneOrGeneProduct | denotes | PstI | NCBIGene:6690 |
| 5087 | 1065-1090 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | MESH:C537881 |
| 5088 | 1122-1126 | DiseaseOrPhenotypicFeature | denotes | LCD1 | MESH:C537881 |
| 5089 | 1408-1416 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 5090 | 1566-1571 | GeneOrGeneProduct | denotes | TGFBI | NCBIGene:7045 |
| 5091 | 1641-1646 | SequenceVariant | denotes | C417T | DBSNP:rs121909210 |
| 5092 | 1684-1689 | SequenceVariant | denotes | R124C | DBSNP:rs121909210 |
| 5093 | 1706-1725 | GeneOrGeneProduct | denotes | TGF-induced protein | NCBIGene:7045 |
| 5094 | 1872-1877 | SequenceVariant | denotes | R124C | DBSNP:rs121909210 |
| 5095 | 1890-1895 | GeneOrGeneProduct | denotes | TGFBI | NCBIGene:7045 |
| 5096 | 1914-1924 | DiseaseOrPhenotypicFeature | denotes | LCD type I | MESH:C537881 |
| 5097 | 2005-2015 | DiseaseOrPhenotypicFeature | denotes | LCD type I | MESH:C537881 |
| 5098 | 2027-2035 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 25-57 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T2 | 25-50 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | 0004686 |
| T3 | 33-50 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | 0018102 |
| T4 | 182-214 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T5 | 182-207 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | 0004686 |
| T6 | 190-207 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | 0018102 |
| T7 | 513-545 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T8 | 513-538 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | 0004686 |
| T9 | 521-538 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | 0018102 |
| T10 | 1065-1090 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | 0004686 |
| T11 | 1073-1090 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | 0018102 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 63-68 | SequenceVariant | denotes | R124C |
| T2 | 654-659 | SequenceVariant | denotes | R124C |
| T3 | 1641-1646 | SequenceVariant | denotes | C417T |
| T4 | 1684-1689 | SequenceVariant | denotes | R124C |
| T5 | 1872-1877 | SequenceVariant | denotes | R124C |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 51-57 | GeneOrGeneProduct | denotes | type I |
| T2 | 85-90 | GeneOrGeneProduct | denotes | TGFBI |
| T3 | 92-97 | GeneOrGeneProduct | denotes | BIGH3 |
| T4 | 208-214 | GeneOrGeneProduct | denotes | type I |
| T5 | 539-545 | GeneOrGeneProduct | denotes | type I |
| T6 | 574-587 | GeneOrGeneProduct | denotes | growth factor |
| T7 | 602-607 | GeneOrGeneProduct | denotes | TGFBI |
| T8 | 716-726 | GeneOrGeneProduct | denotes | polymerase |
| T9 | 727-732 | GeneOrGeneProduct | denotes | chain |
| T10 | 794-800 | GeneOrGeneProduct | denotes | method |
| T11 | 885-891 | GeneOrGeneProduct | denotes | enzyme |
| T12 | 1122-1126 | GeneOrGeneProduct | denotes | LCD1 |
| T13 | 1497-1501 | GeneOrGeneProduct | denotes | best |
| T14 | 1566-1571 | GeneOrGeneProduct | denotes | TGFBI |
| T15 | 1659-1669 | GeneOrGeneProduct | denotes | amino acid |
| T16 | 1718-1725 | GeneOrGeneProduct | denotes | protein |
| T17 | 1890-1895 | GeneOrGeneProduct | denotes | TGFBI |
| T18 | 1918-1924 | GeneOrGeneProduct | denotes | type I |
| T19 | 2009-2015 | GeneOrGeneProduct | denotes | type I |
| T20 | 2041-2046 | GeneOrGeneProduct | denotes | early |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 51-57 | GeneOrGeneProduct | denotes | type I |
| T2 | 69-77 | GeneOrGeneProduct | denotes | mutation |
| T3 | 85-90 | GeneOrGeneProduct | denotes | TGFBI |
| T4 | 92-97 | GeneOrGeneProduct | denotes | BIGH3 |
| T5 | 208-214 | GeneOrGeneProduct | denotes | type I |
| T6 | 222-226 | GeneOrGeneProduct | denotes | in a |
| T7 | 243-250 | GeneOrGeneProduct | denotes | METHODS |
| T8 | 488-500 | GeneOrGeneProduct | denotes | members of a |
| T9 | 539-545 | GeneOrGeneProduct | denotes | type I |
| T10 | 574-587 | GeneOrGeneProduct | denotes | growth factor |
| T11 | 588-595 | GeneOrGeneProduct | denotes | induced |
| T12 | 602-607 | GeneOrGeneProduct | denotes | TGFBI |
| T13 | 644-652 | GeneOrGeneProduct | denotes | mutation |
| T14 | 716-726 | GeneOrGeneProduct | denotes | polymerase |
| T15 | 727-732 | GeneOrGeneProduct | denotes | chain |
| T16 | 788-792 | GeneOrGeneProduct | denotes | RFLP |
| T17 | 794-800 | GeneOrGeneProduct | denotes | method |
| T18 | 821-829 | GeneOrGeneProduct | denotes | mutation |
| T19 | 847-852 | GeneOrGeneProduct | denotes | 4 and |
| T20 | 868-872 | GeneOrGeneProduct | denotes | PstI |
| T21 | 885-891 | GeneOrGeneProduct | denotes | enzyme |
| T22 | 930-938 | GeneOrGeneProduct | denotes | mutation |
| T23 | 1122-1126 | GeneOrGeneProduct | denotes | LCD1 |
| T24 | 1135-1139 | GeneOrGeneProduct | denotes | eyes |
| T25 | 1214-1219 | GeneOrGeneProduct | denotes | years |
| T26 | 1379-1385 | GeneOrGeneProduct | denotes | varied |
| T27 | 1433-1438 | GeneOrGeneProduct | denotes | years |
| T28 | 1497-1501 | GeneOrGeneProduct | denotes | best |
| T29 | 1566-1571 | GeneOrGeneProduct | denotes | TGFBI |
| T30 | 1631-1639 | GeneOrGeneProduct | denotes | mutation |
| T31 | 1659-1669 | GeneOrGeneProduct | denotes | amino acid |
| T32 | 1710-1717 | GeneOrGeneProduct | denotes | induced |
| T33 | 1718-1725 | GeneOrGeneProduct | denotes | protein |
| T34 | 1737-1741 | GeneOrGeneProduct | denotes | RFLP |
| T35 | 1773-1781 | GeneOrGeneProduct | denotes | mutation |
| T36 | 1878-1886 | GeneOrGeneProduct | denotes | mutation |
| T37 | 1890-1895 | GeneOrGeneProduct | denotes | TGFBI |
| T38 | 1918-1924 | GeneOrGeneProduct | denotes | type I |
| T39 | 2009-2015 | GeneOrGeneProduct | denotes | type I |
| T40 | 2041-2046 | GeneOrGeneProduct | denotes | early |
| T41 | 2095-2101 | GeneOrGeneProduct | denotes | raises |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 33-50 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T2 | 190-207 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T3 | 521-538 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T4 | 1073-1090 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T5 | 1276-1283 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 85-90 | GeneOrGeneProduct | denotes | TGFBI |
| T2 | 92-97 | GeneOrGeneProduct | denotes | BIGH3 |
| T3 | 574-587 | GeneOrGeneProduct | denotes | growth factor |
| T4 | 602-607 | GeneOrGeneProduct | denotes | TGFBI |
| T5 | 1122-1126 | GeneOrGeneProduct | denotes | LCD1 |
| T6 | 1566-1571 | GeneOrGeneProduct | denotes | TGFBI |
| T7 | 1890-1895 | GeneOrGeneProduct | denotes | TGFBI |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 25-57 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T2 | 182-214 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T3 | 216-220 | DiseaseOrPhenotypicFeature | denotes | LCDI | 0007380 |
| T4 | 513-545 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T5 | 1065-1090 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | 0004686 |
| T6 | 1914-1917 | DiseaseOrPhenotypicFeature | denotes | LCD | 0007380 |
| T7 | 2005-2008 | DiseaseOrPhenotypicFeature | denotes | LCD | 0007380 |
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 25-57 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T2 | 182-214 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T3 | 216-220 | DiseaseOrPhenotypicFeature | denotes | LCDI | 0007380 |
| T4 | 513-545 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | 0007380 |
| T5 | 1065-1090 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy | 0004686 |
| T6 | 1914-1917 | DiseaseOrPhenotypicFeature | denotes | LCD | 0007380 |
| T7 | 2005-2008 | DiseaseOrPhenotypicFeature | denotes | LCD | 0007380 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 33-50 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T2 | 190-207 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T3 | 216-220 | DiseaseOrPhenotypicFeature | denotes | LCDI | DISEASE |
| T4 | 521-538 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T5 | 1073-1090 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T6 | 1122-1126 | DiseaseOrPhenotypicFeature | denotes | LCD1 | DISEASE |
| T7 | 1276-1283 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 25-57 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | C537881 |
| T2 | 182-214 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | C537881 |
| T3 | 216-220 | DiseaseOrPhenotypicFeature | denotes | LCDI | DISEASE |
| T4 | 513-545 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | C537881 |
| T5 | 1073-1090 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 |
| T6 | 1122-1126 | DiseaseOrPhenotypicFeature | denotes | LCD1 | DISEASE |
| T7 | 1914-1924 | DiseaseOrPhenotypicFeature | denotes | LCD type I | DISEASE |
| T8 | 2005-2015 | DiseaseOrPhenotypicFeature | denotes | LCD type I | DISEASE |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 868-891 | ChemicalEntity | denotes | PstI restriction enzyme | C024388 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 1408-1416 | OrganismTaxon | denotes | patients |
| T2 | 2027-2035 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T1 | 868-891 | ChemicalEntity | denotes | PstI restriction enzyme | C024388 | |
| T7 | 1890-1895 | GeneOrGeneProduct | denotes | TGFBI | ||
| T6 | 1566-1571 | GeneOrGeneProduct | denotes | TGFBI | ||
| T5 | 1122-1126 | GeneOrGeneProduct | denotes | LCD1 | ||
| T4 | 602-607 | GeneOrGeneProduct | denotes | TGFBI | ||
| T3 | 574-587 | GeneOrGeneProduct | denotes | growth factor | ||
| T2 | 92-97 | GeneOrGeneProduct | denotes | BIGH3 | ||
| T55442 | 85-90 | GeneOrGeneProduct | denotes | TGFBI | ||
| T8 | 2005-2015 | DiseaseOrPhenotypicFeature | denotes | LCD type I | DISEASE | |
| T9349 | 1914-1924 | DiseaseOrPhenotypicFeature | denotes | LCD type I | DISEASE | |
| T33553 | 1122-1126 | DiseaseOrPhenotypicFeature | denotes | LCD1 | DISEASE | |
| T74276 | 1073-1090 | DiseaseOrPhenotypicFeature | denotes | corneal dystrophy | D003317 | |
| T90895 | 513-545 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | C537881 | |
| T62723 | 216-220 | DiseaseOrPhenotypicFeature | denotes | LCDI | DISEASE | |
| T84989 | 182-214 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | C537881 | |
| T50708 | 25-57 | DiseaseOrPhenotypicFeature | denotes | lattice corneal dystrophy type I | C537881 | |
| T49314 | 2027-2035 | OrganismTaxon | denotes | patients | ||
| T88196 | 1408-1416 | OrganismTaxon | denotes | patients | ||
| T82542 | 1872-1877 | SequenceVariant | denotes | R124C | ||
| T28348 | 1684-1689 | SequenceVariant | denotes | R124C | ||
| T96972 | 1641-1646 | SequenceVariant | denotes | C417T | ||
| T81756 | 654-659 | SequenceVariant | denotes | R124C | ||
| T23491 | 63-68 | SequenceVariant | denotes | R124C |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-104 | Sentence | denotes | Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. |
| TextSentencer_T2 | 105-113 | Sentence | denotes | PURPOSE: |
| TextSentencer_T3 | 114-242 | Sentence | denotes | To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. |
| TextSentencer_T4 | 243-251 | Sentence | denotes | METHODS: |
| TextSentencer_T5 | 252-395 | Sentence | denotes | Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. |
| TextSentencer_T6 | 396-546 | Sentence | denotes | Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I. |
| TextSentencer_T7 | 547-690 | Sentence | denotes | Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing. |
| TextSentencer_T8 | 691-892 | Sentence | denotes | We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme. |
| TextSentencer_T9 | 893-988 | Sentence | denotes | Using this strategy, we analyzed the mutation in six affected and three healthy family members. |
| TextSentencer_T10 | 989-997 | Sentence | denotes | RESULTS: |
| TextSentencer_T11 | 998-1091 | Sentence | denotes | Three generations of family members were positively diagnosed with lattice corneal dystrophy. |
| TextSentencer_T12 | 1092-1169 | Sentence | denotes | Six participants demonstrated LCD1 in both eyes, most of whom were symmetric. |
| TextSentencer_T13 | 1170-1225 | Sentence | denotes | Age at onset of symptoms was variable (3-42 years old). |
| TextSentencer_T14 | 1226-1364 | Sentence | denotes | Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation. |
| TextSentencer_T15 | 1365-1403 | Sentence | denotes | Visual acuity varied from 1.0 to 0.13. |
| TextSentencer_T16 | 1404-1542 | Sentence | denotes | Two patients, ages 69 and 44 years old, demonstrated a degree of severity "Bad" according to best-corrected vision and corneal commitment. |
| TextSentencer_T17 | 1543-1726 | Sentence | denotes | The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF-induced protein. |
| TextSentencer_T18 | 1727-1854 | Sentence | denotes | Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members. |
| TextSentencer_T19 | 1855-1867 | Sentence | denotes | CONCLUSIONS: |
| TextSentencer_T20 | 1868-1952 | Sentence | denotes | The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family. |
| TextSentencer_T21 | 1953-2036 | Sentence | denotes | This is the first report of a molecular analysis of LCD type I in Chilean patients. |
| TextSentencer_T22 | 2037-2134 | Sentence | denotes | The early onset affected persons in the fourth generation raises the possibility of anticipation. |
| T1 | 0-104 | Sentence | denotes | Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. |
| T2 | 105-113 | Sentence | denotes | PURPOSE: |
| T3 | 114-242 | Sentence | denotes | To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. |
| T4 | 243-251 | Sentence | denotes | METHODS: |
| T5 | 252-395 | Sentence | denotes | Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. |
| T6 | 396-546 | Sentence | denotes | Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I. |
| T7 | 547-690 | Sentence | denotes | Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing. |
| T8 | 691-892 | Sentence | denotes | We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme. |
| T9 | 893-988 | Sentence | denotes | Using this strategy, we analyzed the mutation in six affected and three healthy family members. |
| T10 | 989-997 | Sentence | denotes | RESULTS: |
| T11 | 998-1091 | Sentence | denotes | Three generations of family members were positively diagnosed with lattice corneal dystrophy. |
| T12 | 1092-1169 | Sentence | denotes | Six participants demonstrated LCD1 in both eyes, most of whom were symmetric. |
| T13 | 1170-1225 | Sentence | denotes | Age at onset of symptoms was variable (3-42 years old). |
| T14 | 1226-1364 | Sentence | denotes | Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation. |
| T15 | 1365-1403 | Sentence | denotes | Visual acuity varied from 1.0 to 0.13. |
| T16 | 1404-1542 | Sentence | denotes | Two patients, ages 69 and 44 years old, demonstrated a degree of severity "Bad" according to best-corrected vision and corneal commitment. |
| T17 | 1543-1726 | Sentence | denotes | The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF-induced protein. |
| T18 | 1727-1854 | Sentence | denotes | Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members. |
| T19 | 1855-1867 | Sentence | denotes | CONCLUSIONS: |
| T20 | 1868-1952 | Sentence | denotes | The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family. |
| T21 | 1953-2036 | Sentence | denotes | This is the first report of a molecular analysis of LCD type I in Chilean patients. |
| T22 | 2037-2134 | Sentence | denotes | The early onset affected persons in the fourth generation raises the possibility of anticipation. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 85-90 | gene:7045 | denotes | TGFBI |
| T1 | 25-57 | disease:C1690006 | denotes | lattice corneal dystrophy type I |
| T2 | 92-97 | gene:7045 | denotes | BIGH3 |
| T3 | 25-57 | disease:C1690006 | denotes | lattice corneal dystrophy type I |
| R1 | T0 | T1 | associated_with | TGFBI,lattice corneal dystrophy type I |
| R2 | T2 | T3 | associated_with | BIGH3,lattice corneal dystrophy type I |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 18470323-0#63#68#geners121909210 | 63-68 | geners121909210 | denotes | R124C |
| 18470323-0#25#57#diseaseC1690006 | 25-57 | diseaseC1690006 | denotes | lattice corneal dystrophy type I |
| 63#68#geners12190921025#57#diseaseC1690006 | 18470323-0#63#68#geners121909210 | 18470323-0#25#57#diseaseC1690006 | associated_with | R124C,lattice corneal dystrophy type I |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 18470323-0#85#90#gene7045 | 85-90 | gene7045 | denotes | TGFBI |
| 18470323-0#92#97#gene7045 | 92-97 | gene7045 | denotes | BIGH3 |
| 18470323-0#25#57#diseaseC1690006 | 25-57 | diseaseC1690006 | denotes | lattice corneal dystrophy type I |
| 85#90#gene704525#57#diseaseC1690006 | 18470323-0#85#90#gene7045 | 18470323-0#25#57#diseaseC1690006 | associated_with | TGFBI,lattice corneal dystrophy type I |
| 92#97#gene704525#57#diseaseC1690006 | 18470323-0#92#97#gene7045 | 18470323-0#25#57#diseaseC1690006 | associated_with | BIGH3,lattice corneal dystrophy type I |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 25-50 | HP:0001149 | denotes | lattice corneal dystrophy |
| AB1 | 182-207 | HP:0001149 | denotes | lattice corneal dystrophy |
| AB2 | 513-538 | HP:0001149 | denotes | lattice corneal dystrophy |
| AB3 | 1065-1090 | HP:0001149 | denotes | lattice corneal dystrophy |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 25-57 | ORDO:98964 | denotes | lattice corneal dystrophy type I |
| AB1 | 182-214 | ORDO:98964 | denotes | lattice corneal dystrophy type I |
| AB2 | 216-220 | ORDO:98964 | denotes | LCDI |
| AB3 | 513-545 | ORDO:98964 | denotes | lattice corneal dystrophy type I |
| AB4 | 1122-1126 | ORDO:98964 | denotes | LCD1 |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 336-342 | http://purl.obolibrary.org/obo/UBERON_0000964 | denotes | cornea |
| PD-UBERON-AE-B_T2 | 1135-1139 | http://purl.obolibrary.org/obo/UBERON_0000970 | denotes | eyes |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 336-342 | http://purl.obolibrary.org/obo/UBERON_0000964 | denotes | cornea |
| PD-UBERON-AE-B_T2 | 1135-1139 | http://purl.obolibrary.org/obo/UBERON_0000970 | denotes | eyes |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 63-68 | ProteinMutation:p|SUB|R|124|C | denotes | R124C |
| T2 | 654-659 | ProteinMutation:p|SUB|R|124|C | denotes | R124C |
| T3 | 1641-1646 | DNAMutation:c|SUB|C|417|T | denotes | C417T |
| T4 | 1684-1689 | ProteinMutation:p|SUB|R|124|C | denotes | R124C |
| T5 | 1872-1877 | ProteinMutation:p|SUB|R|124|C | denotes | R124C |