LitCoin-sentences  

PubMed:18470323 JSONTXT 38 Projects

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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.