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Identification ofthree novel mutationsin human EYA1 proteinassociated withbranchio-oto-renalsyndrome Shrawan KumarWilliam J. KimberlingMichael D. Weston1998 год

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
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Страница публикацииПубликация в OpenAlex
Аннотация: 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. Hum Mutat 11:443–449, 1998. © 1998 Wiley-Liss, Inc.
Год издания: 1998
Авторы: Shrawan Kumar, William J. Kimberling, Michael D. Weston, Bradley G. Schaefer, Mary Anne Berg, Henri A. M. Marres, Cor W. R. J. Cremers
Издательство: Wiley
Источник: Human Mutation
Ключевые слова: Head and Neck Anomalies, Teratomas and Epidermoid Cysts
Другие ссылки: Human Mutation (HTML)
PubMed (HTML)