title: Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
abstract: Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present study, we carried out the mutation analysis in all 69 exons of the CDH23 gene in 56 Usher type 1 probands already screened for mutations in MYO7A. A total of 18 of 56 subjects (32.1%) were observed to have one or two CDH23 variants that are presumed to be pathologic. Twenty one different pathologic genome variants were observed of which 15 were novel. Out of a total of 112 alleles, 31 (27.7%) were considered pathologic. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations.
authors.affiliation: Center for the Study and Treatment of Usher Syndrome, Boys Town National research hospital, Omaha, Nebraska 68131, USA.
authors.forename: A
authors.initials: A
authors.lastname: Oshima
authors.forename: T
authors.initials: T
authors.lastname: Jaijo
authors.forename: E
authors.initials: E
authors.lastname: Aller
authors.forename: J M
authors.initials: JM
authors.lastname: Millan
authors.forename: C
authors.initials: C
authors.lastname: Carney
authors.forename: S
authors.initials: S
authors.lastname: Usami
authors.forename: C
authors.initials: C
authors.lastname: Moller
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
mesh_terms: D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D004398:Dyneins / Q000235:genetics; D005091:Exons; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D017434:Protein Structure, Tertiary; D013030:Spain; D013548:Sweden; D014481:United States; D052245:Usher Syndromes / Q000235:genetics*
chemical_list: C442480:CDH23 protein, human; D000070585:Cadherin Related Proteins; D015820:Cadherins; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins; D004398:Dyneins