congenital deafness with inner ear agenesis, microtia and microdontia
Monday 3 December 2007
Definition: Autosomal recessive congenital deafness with by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia) (MIM.610706).
The autosomal recessive combination of congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia can be caused by mutations in the FGF3 gene (MIM.164950).
germline mutations of FGF3 (MIM.164950)
Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N.Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.Am J Hum Genet. 2007 Feb;80(2):338-44. PMID: 17236138