Linked Life Data

18280297

Source:http://linkedlifedata.com/resource/pubmed/id/18280297

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2008-2-18
pubmed:abstractText
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by imperforate anus and limb and ear malformations with sensorineural hearing loss. Mutations in SALL1, a gene mapping to chromosome 16q21.1, are responsible for TBS. Here, we described a 16-month-old male patient with typical TBS clinical features including imperforate anus and preaxial polydactyly. Two coding polymorphism sites were identified in this case. One is silent (rs1965024, 2574 C > T), whereas the other yields a new codon encoding a different amino acid (rs4614723, 3823 G > A). The hot spot mutations in exon 2 were not suggested. Therefore, lack of SALL1 gene mutations and the presence of variable phenotypes in the sporadic cases might suggest DNA alternations in the noncoding regions of SALL1 gene and/or in other genes modulating SALL1 gene expression or functions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1531-5037
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
391-3
pubmed:dateRevised
2008-4-22
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
pubmed:affiliation
Department of Pediatric Surgery, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China.
pubmed:publicationType
Journal Article, Review, Case Reports