Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

Mustafa Tekin, Burcu Öztürk Hişmi, Suat Fitoz, Hilal Özdaǧ, Filiz Başak Cengiz, Asli Sirmaci, Idil Aslan, Bora Inceoǧlu, E. Berrin Yüksel-Konuk, Seda Taşir Yilmaz, Öztan Yasun, Nejat Akar

Research output: Contribution to journalArticlepeer-review

77 Scopus citations

Abstract

We identified nine individuals from three unrelated Turkish families with a unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia). We later demonstrated three different homozygous mutations (p.S156P, p.R104X, and p.V206SfsX117) in the fibroblast growth factor 3 (FGF3) gene in affected members of these families, cosegregating with the autosomal recessive transmission as a completely penetrant phenotype. These findings demonstrate the involvement of FGF3 mutations in a human malformation syndrome for the first time and contribute to our understanding of the role this gene plays in embryonic development. Of particular interest is that the development of the inner ear is completely disturbed at a very early stage-or the otic vesicle is not induced at all-in all of the affected individuals who carried two mutant FGF3 alleles.

Original languageEnglish (US)
Pages (from-to)338-344
Number of pages7
JournalAmerican journal of human genetics
Volume80
Issue number2
DOIs
StatePublished - Feb 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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