一个新基因TMIE的突变与与DFNB6位点相关的听力损失有关。
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
作者信息
Naz Sadaf, Giguere Chantal M, Kohrman David C, Mitchem Kristina L, Riazuddin Saima, Morell Robert J, Ramesh Arabandi, Srisailpathy Srikumari, Deshmukh Dilip, Riazuddin Sheikh, Griffith Andrew J, Friedman Thomas B, Smith Richard J H, Wilcox Edward R
机构信息
Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA.
出版信息
Am J Hum Genet. 2002 Sep;71(3):632-6. doi: 10.1086/342193. Epub 2002 Jul 24.
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.
摘要
我们在一个新基因TMIE（跨膜内耳表达基因）中鉴定出了五种不同的纯合隐性突变，该基因存在于患有严重至极重度语前聋的近亲家庭的患病成员中，这与DFNB6连锁一致。这些突变包括一个插入突变、一个缺失突变和三个错义突变，它们表明TMIE功能丧失会导致人类听力损失。TMIE编码一种含有156个氨基酸的蛋白质，与任何其他基因在核苷酸或推导的氨基酸序列上均无显著相似性。
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