Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

Human Mutation

Volumn 17, Issue 1, 2001, Pages 34-41

  Zwaenepoel, Ingrid ^a   Verpy, Elisabeth ^a   Blanchard, Stéphane ^a   Meins, Moritz ^b   Apfelstedt Sylla, Eckart ^c   Gal, Andreas ^b   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Haplotype analysis; Harmonin; Mutations; Polymorphisms; USH1C; Usher syndrome

Indexed keywords

GENE PRODUCT; MEPROBAMATE; MYOSIN; PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONGENITAL DEAFNESS; DISEASE SEVERITY; DNA POLYMORPHISM; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; USHER SYNDROME; VESTIBULAR DISORDER;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; CARRIER PROTEINS; CHILD; CODON, NONSENSE; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0035175198     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O     Document Type: Article

References (13)

1. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
2. Usher syndrome: Definition and estimate of prevalence from two high-risk populations
3. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer
4. Protein modules as organizers of membrane structure
5. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
6. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type h confirmation of genetic heterogeneity
7. Identification of an autoimmune enteropathy-related 75-kilodalton antigen
8. PDZ domains: Targeting signalling molecules to sub-membranous sites
9. Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project
10. On the inheritance of retinitis pigmentosa with notes of cases
11. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
12. Defective myosin VIIA gene responsible for Usher syndrome type 1B
13. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness