Linked Life Data

17364338

Source:http://linkedlifedata.com/resource/pubmed/id/17364338

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-3-16
pubmed:abstractText
Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder characterized by malformations of the ear associated with hearing impairment, branchial fistulae or cysts, and renal malformations. Mutations in the gene EYA1 have been found to be responsible for BOR syndrome in approximately 40% of the subjects. Here we report a Japanese family with BOR syndrome associated with a frameshift mutation in EYA1. This mutation, 1667-1668insT, has not been previously reported and is also the first frameshift mutation in exon 16 of this gene. We describe the detailed clinical features and medical highlights of the family members, and based on their clinical histories we propose that genetic testing for EYA1 mutations would contribute to the diagnosis of BOR syndrome, facilitate genetic counseling for recurrence, give precautions regarding possible renal disorders later in life, and impact the consideration of surgical intervention for middle ear anomalies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0001-6489
pubmed:author
pubmed:issnType
Print
pubmed:volume
127
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
98-104
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.
pubmed:affiliation
Department of Otolaryngology/Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan. matsunagatatsuo@kankakuki.go.jp
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't