Linked Life Data

9603436

Source:http://linkedlifedata.com/resource/pubmed/id/9603436

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1998-6-25
pubmed:abstractText
The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutations in the EYA1 gene cause BOR syndrome are unknown. We have investigated 12 unrelated Caucasian families for mutations by heteroduplex analysis and direct sequencing of products from the polymerase chain reaction. In this study, we identified two novel frameshift deletions and a single base substitution that introduces a stop codon mutation in the C-terminal region of the EYA1 gene. No obvious relationships were observed between the nature of the mutations and the variable clinical features associated with BOR syndrome.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
443-9
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
pubmed:affiliation
Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. Kumar@boystown.org
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.