Fabienne Levi-Acobas

TL;DR: Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.

TL;DR: In this article, the authors proposed that a defective myosin-VIIA gene may also be responsible for deafness in Usher syndrome type I, USH1B, by linkage analysis of a single family whose members were affected with profound deafness, some of them presenting with vestibular dysfunction.

TL;DR: It is shown that a mutation in Cx26 underlies the dominant form of deafness, DFNA3, the autosomal recessive form of which has remained controversial.

TL;DR: Sequence analysis of the entire EYA1 coding region was performed for 20 unrelated patients affected by BOR syndrome, and six novel mutations were identified; among these mutations, two are missense mutations, highlighting amino acid residues essential for the function of the EYA2 protein, and one mutation comprises a de novo Alu insertion into an exon.

TL;DR: The reconstituted cDNA sequence presented here predicts a 2215 amino acid protein with a typical unconventional myosin structure that is expected to dimerize into a two-headed molecule in patients with Usher syndrome type III.