Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Saima Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J. H Smith; Edward R Wilcox

doi:10.1086/342193

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Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

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Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

Sadaf Naz, Chantal M Giguere, David C Kohrman, Kristina L Mitchem, Saima Riazuddin, Robert J Morell, Arabandi Ramesh, Srikumari Srisailpathy, Dilip Deshmukh, Sheikh Riazuddin, …

American journal of human genetics, Vol.71(3), pp.632-636

09/2002

DOI: 10.1086/342193

PMCID: PMC379198

PMID: 12145746

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Abstract

We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6. The mutations include an insertion, a deletion, and three missense mutations, and they indicate that loss of function of TMIE causes hearing loss in humans. TMIE encodes a protein with 156 amino acids and exhibits no significant nucleotide or deduced amino acid sequence similarity to any other gene.

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Title: Subtitle: Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus
Creators: Sadaf Naz - Section on Human Genetics and
Chantal M Giguere - Section on Human Genetics and
David C Kohrman - Section on Human Genetics and
Kristina L Mitchem - Section on Human Genetics and
Saima Riazuddin - Section on Human Genetics and
Robert J Morell - Section on Human Genetics and
Arabandi Ramesh - Section on Human Genetics and
Srikumari Srisailpathy - Section on Human Genetics and
Dilip Deshmukh - Section on Human Genetics and
Sheikh Riazuddin - Section on Human Genetics and
Andrew J Griffith - Section on Human Genetics and
Thomas B Friedman - Section on Human Genetics and
Richard J. H Smith - Section on Human Genetics and
Edward R Wilcox - Section on Human Genetics and
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.71(3), pp.632-636
DOI: 10.1086/342193
PMID: 12145746
PMCID: PMC379198
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: The American Society of Human Genetics
Alternative title: Mutations in TMIE Cause DFNB6 Hearing Loss
Language: English
Date published: 09/2002
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006409202771

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