Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 345-349

  Verpy, Elisabeth ^a   Masmoudi, Saber ^a,b   Zwaenepoel, Ingrid ^a   Leibovici, Michel ^a   Hutchin, Tim P ^c   Del Castillo, Ignacio ^d   Nouaille, Sylvie ^a   Blanchard, Stéphane ^a   Lainé, Sophie ^a   Popot, Jean Luc ^e   Moreno, Felipe ^d   Mueller, Robert F ^c   Petit, Christine ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITY OF SFAX   (Tunisia)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e INST DE BIOLOGIE PHYSICO CHIMIQUE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN DFNB16; PROTEIN STEREOCILIN; PROTEIN STRC; UNCLASSIFIED DRUG;

ARTICLE; AUDITORY STIMULATION; CHROMOSOME 15Q; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HAIR CELL; HEARING IMPAIRMENT; HUMAN; IMMUNOHISTOCHEMISTRY; INCIDENCE; MICROVILLUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ISOLATION; SEQUENCE ANALYSIS; STEREOCILIUM; TANDEM REPEAT;

AMINO ACID SEQUENCE; ANIMALS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; CLONING, MOLECULAR; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; GENE EXPRESSION PROFILING; GENETIC MARKERS; HAIR CELLS; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MICE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TANDEM REPEAT SEQUENCES;

EID: 20244389145     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng726     Document Type: Article

References (19)

1. Molecular genetics of hearing loss
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3. Otogelin: A glycoprotein specific to the acellular membranes of the inner ear
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7. Targeted disruption of Otog results in deafness and severe imbalance
8. Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes
9. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB 16) maps to human chromosome 15q21 -q 22
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