LitCoin-sentences  

PubMed:20846357 JSONTXT 35 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-147 Sentence denotes A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
T2 148-159 Sentence denotes BACKGROUND:
T3 160-343 Sentence denotes Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26.
T4 344-454 Sentence denotes The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date.
T5 455-459 Sentence denotes AIM:
T6 460-624 Sentence denotes To report the fatal clinical course and characterize the genetic background of a premature male neonate with the clinical and histological features of KID syndrome.
T7 625-633 Sentence denotes METHODS:
T8 634-730 Sentence denotes Genomic DNA was extracted from peripheral blood and used for PCR amplification of the GJB2 gene.
T9 731-780 Sentence denotes Direct sequencing was used for mutation analysis.
T10 781-789 Sentence denotes RESULTS:
T11 790-1014 Sentence denotes The clinical features included hearing impairment, ichthyosiform erythroderma with hyperkeratotic plaques, palmoplantar keratoderma, alopecia of the scalp and eyelashes, and a thick vernix caseosa-like covering of the scalp.
T12 1015-1181 Sentence denotes On histological analysis, features characteristic of KID syndrome, such as acanthosis and papillomatosis of the epidermis with basket-weave hyperkeratosis, were seen.
T13 1182-1251 Sentence denotes The skin symptoms were treated successfully with acitretin 0.5 mg/kg.
T14 1252-1343 Sentence denotes The boy developed intraventricular and intracerebral haemorrhage, leading to hydrocephalus.
T15 1344-1502 Sentence denotes His condition was further complicated by septicaemia and meningitis caused by infection with extended-spectrum beta-lactamase-producing Klebsiella pneumoniae.
T16 1503-1613 Sentence denotes Severe respiratory failure followed, and the child died at 46 weeks of gestational age (13 weeks postnatally).
T17 1614-1809 Sentence denotes Sequencing of the GJB2 gene showed that the child was heterozygous for a novel nucleotide change, c.263C>T, in exon 2, leading to a substitution of alanine for valine at position 88 (p.Ala88Val).
T18 1810-1822 Sentence denotes CONCLUSIONS:
T19 1823-1949 Sentence denotes This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome.