Literature DB >> 15583425

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22.

Muhammad Ansar1, Maria H Chahrour, Mohammad Amin Ud Din, Muhammad Arshad, Sayedul Haque, Thanh L Pham, Kai Yan, Wasim Ahmad, Suzanne M Leal.   

Abstract

The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI account for approximately 75% of hereditary cases. A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map. Copyright (c) 2004 S. Karger AG, Basel.

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Year:  2004        PMID： 15583425      PMCID： PMC2920138          DOI： 10.1159/000081446

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


  15 in total

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10.  Syngeneic bone marrow transplantation reduces the hearing loss associated with murine mucopolysaccharidosis type VII.

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2.  Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

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