title: Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.
abstract: Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. This is the first report of sector RP associated with these types of mutations in CDH23.
authors.forename: Sara V
authors.initials: SV
authors.lastname: Branson
authors.forename: Jedediah I
authors.initials: JI
authors.lastname: McClintic
authors.forename: Tara H
authors.initials: TH
authors.lastname: Stamper
authors.forename: Chad R
authors.initials: CR
authors.lastname: Haldeman-Englert
authors.forename: Vishak J
authors.initials: VJ
authors.lastname: John
mesh_terms: D000328:Adult; D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D022821:RNA Splice Sites; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D052245:Usher Syndromes / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: C442480:CDH23 protein, human; D000070585:Cadherin Related Proteins; D015820:Cadherins; D022821:RNA Splice Sites