A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 425-432

  Matsunaga, T ^a   Mutai, H ^a   Kunishima, S ^b   Namba, K ^a   Morimoto, N ^c   Shinjo, Y ^a   Arimoto, Y ^d   Kataoka, Y ^e   Shintani, T ^f   Morita, N ^g   Sugiuchi, T ^h   Masuda, S ⁱ   Nakano, A ^d   Taiji, H ^c   Kaga, K ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e OKAYAMA UNIVERSITY   (Japan)

^f SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h KANTO ROSAI HOSPITAL   (Japan)

ⁱ MIE NATIONAL HOSPITAL   (Japan)

Author keywords

Auditory neuropathy; Genotype phenotype correlation; Mutation; Non syndromic hearing loss; OTOF

Indexed keywords

ALLELE; ARTICLE; AUDIOGRAPHY; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GJB2 GENE; HAIR CELL; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OTOF GENE; PJVK GENE; PREVALENCE; PRIORITY JOURNAL; UNITED STATES; VESTIBULOCOCHLEAR NERVE DISEASE;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CONNEXINS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; HEARING LOSS, CENTRAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PREVALENCE; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, DNA;

EID: 84867658612     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01897.x     Document Type: Article

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