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PubMed:15851735 JSONTXT

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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15851735-12#17#26#geners386833565 1305-1314 geners386833565 denotes c.2607C>A
15851735-12#166#168#diseaseC0751748 1454-1456 diseaseC0751748 denotes GE
17#26#geners386833565166#168#diseaseC0751748 15851735-12#17#26#geners386833565 15851735-12#166#168#diseaseC0751748 associated_with c.2607C>A,GE

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15851735-0#76#80#gene2731 76-80 gene2731 denotes GLDC
15851735-0#5#27#diseaseC0751748 5-27 diseaseC0751748 denotes glycine encephalopathy
15851735-0#29#32#diseaseC0751748 29-32 diseaseC0751748 denotes NKH
76#80#gene27315#27#diseaseC0751748 15851735-0#76#80#gene2731 15851735-0#5#27#diseaseC0751748 associated_with GLDC,glycine encephalopathy
76#80#gene273129#32#diseaseC0751748 15851735-0#76#80#gene2731 15851735-0#29#32#diseaseC0751748 associated_with GLDC,NKH

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 5-27 ORDO:407 denotes glycine encephalopathy
AB1 133-155 ORDO:407 denotes glycine encephalopathy

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-97 Sentence denotes Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
TextSentencer_T2 98-109 Sentence denotes BACKGROUND:
TextSentencer_T3 110-197 Sentence denotes Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening.
TextSentencer_T4 198-297 Sentence denotes Milder, later onset variants have been reported but were usually sporadic and incompletely defined.
TextSentencer_T5 298-308 Sentence denotes OBJECTIVE:
TextSentencer_T6 309-455 Sentence denotes To determine the clinical and biochemical phenotype and molecular basis of mild GE in nine children from a consanguineous Israeli Bedouin kindred.
TextSentencer_T7 456-464 Sentence denotes METHODS:
TextSentencer_T8 465-529 Sentence denotes Genomic DNA was screened for GLDC, AMT, and GCSH gene mutations.
TextSentencer_T9 530-630 Sentence denotes GLDC expression in lymphoblasts was studied by Northern blot and reverse transcriptase PCR analysis.
TextSentencer_T10 631-639 Sentence denotes RESULTS:
TextSentencer_T11 640-848 Sentence denotes Clinical features included hypotonia, abnormal movements, convulsions, and moderate mental retardation with relative sparing of gross motor function, activities of daily living skills, and receptive language.
TextSentencer_T12 849-892 Sentence denotes Aggression and irritability were prominent.
TextSentencer_T13 893-955 Sentence denotes CSF-to-plasma glycine ratio was mildly to moderately elevated.
TextSentencer_T14 956-1093 Sentence denotes All nine patients were homozygous and their parents heterozygous for a novel, translationally silent GLDC exon 22 transversion c.2607C>A.
TextSentencer_T15 1094-1149 Sentence denotes Lymphoblast GLDC mRNA levels were considerably reduced.
TextSentencer_T16 1150-1287 Sentence denotes Three aberrantly spliced cDNA species were identified: exon 22 and exon 22 to 23 skipping, and insertion of an 87-base pair cryptic exon.
TextSentencer_T17 1288-1457 Sentence denotes Homozygosity for c.2607C>A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE.
TextSentencer_T18 1458-1552 Sentence denotes Mutation analysis enabled prenatal diagnosis of three unaffected and one affected pregnancies.
TextSentencer_T19 1553-1565 Sentence denotes CONCLUSIONS:
TextSentencer_T20 1566-1666 Sentence denotes The mutation in this kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression.
TextSentencer_T21 1667-1844 Sentence denotes The 4 to 6% of normally spliced GLDC mRNA in the patients may account for their relatively favorable clinical outcome compared with patients with classic glycine encephalopathy.
T1 0-97 Sentence denotes Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.
T2 98-109 Sentence denotes BACKGROUND:
T3 110-197 Sentence denotes Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening.
T4 198-297 Sentence denotes Milder, later onset variants have been reported but were usually sporadic and incompletely defined.
T5 298-308 Sentence denotes OBJECTIVE:
T6 309-455 Sentence denotes To determine the clinical and biochemical phenotype and molecular basis of mild GE in nine children from a consanguineous Israeli Bedouin kindred.
T7 456-464 Sentence denotes METHODS:
T8 465-529 Sentence denotes Genomic DNA was screened for GLDC, AMT, and GCSH gene mutations.
T9 530-630 Sentence denotes GLDC expression in lymphoblasts was studied by Northern blot and reverse transcriptase PCR analysis.
T10 631-639 Sentence denotes RESULTS:
T11 640-848 Sentence denotes Clinical features included hypotonia, abnormal movements, convulsions, and moderate mental retardation with relative sparing of gross motor function, activities of daily living skills, and receptive language.
T12 849-892 Sentence denotes Aggression and irritability were prominent.
T13 893-955 Sentence denotes CSF-to-plasma glycine ratio was mildly to moderately elevated.
T14 956-1093 Sentence denotes All nine patients were homozygous and their parents heterozygous for a novel, translationally silent GLDC exon 22 transversion c.2607C>A.
T15 1094-1149 Sentence denotes Lymphoblast GLDC mRNA levels were considerably reduced.
T16 1150-1287 Sentence denotes Three aberrantly spliced cDNA species were identified: exon 22 and exon 22 to 23 skipping, and insertion of an 87-base pair cryptic exon.
T17 1288-1457 Sentence denotes Homozygosity for c.2607C>A was also identified in an unrelated but haplotypically identical patient with an unusually favorable outcome despite severe neonatal-onset GE.
T18 1458-1552 Sentence denotes Mutation analysis enabled prenatal diagnosis of three unaffected and one affected pregnancies.
T19 1553-1565 Sentence denotes CONCLUSIONS:
T20 1566-1666 Sentence denotes The mutation in this kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression.
T21 1667-1844 Sentence denotes The 4 to 6% of normally spliced GLDC mRNA in the patients may account for their relatively favorable clinical outcome compared with patients with classic glycine encephalopathy.

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 13-27 HP:0001298 denotes encephalopathy
AB1 141-155 HP:0001298 denotes encephalopathy
AB2 864-876 HP:0000737 denotes irritability
AB3 1829-1843 HP:0001298 denotes encephalopathy

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1083-1092 DNAMutation:c|SUB|C|2607|A denotes c.2607C>A
T2 1305-1314 DNAMutation:c|SUB|C|2607|A denotes c.2607C>A

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1699-1703 gene:2731 denotes GLDC
T1 1821-1843 disease:C0751748 denotes glycine encephalopathy
R1 T0 T1 associated_with GLDC,glycine encephalopathy