Identification and in vitro expression of novel CDH23 mutations of patients with usher syndrome type 1D

Human Mutation

Volumn 19, Issue 3, 2002, Pages 268-273

  Von Brederlow, Benigna ^a   Bolz, Hanno ^a   Janecke, Andreas ^b   La O Cabrera, Alicia ^c   Rudolph, Günther ^d   Lorenz, Birgit ^e   Schwinger, Eberhard ^f   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF INNSBRUCK   (Austria)

^c Retinitis Pigmentosa Center   (Cuba)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^f UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Cadherin 23; CDH23; Deafness; DFNB12; Exon trapping; Retinal disease; Retinitis pigmentosa; RP; Splicing; USH1D; Usher syndrome

Indexed keywords

CADHERIN; MESSENGER RNA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; EXON; GENE EXPRESSION; GENE LOCUS; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; RNA TRANSLATION; SINGLE STRAND CONFORMATION POLYMORPHISM; USHER SYNDROME; VESTIBULAR DISORDER;

INSERTION SEQUENCES;

EID: 0036190161     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10049     Document Type: Article

References (13)

1. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
2. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
3. Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
4. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type ID
5. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
6. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
7. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity
8. The usher syndromes
9. Haplotype analysis of the USH1D locus and genotype-phenotype correlations
10. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
11. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
12. Statistical features of human exons and their flanking regions
13. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis