Literature DB >> 16098016

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

S Irshad1, R L P Santos, D Muhammad, K Lee, N McArthur, S Haque, W Ahmad, S M Leal.   

Abstract

Hereditary hearing impairment (HI) is the most genetically heterogeneous trait known in humans. So far, 54 autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 21 ARNSHI genes have been identified. Here is reported the mapping of a novel ARNSHI locus, DFNB55, to chromosome 4q12-q13.2 in a consanguineous Pakistani family. A maximum multipoint LOD score of 3.5 was obtained at marker D4S2638. The region of homozygosity and the 3-unit support interval are flanked by markers D4S2978 and D4S2367. The region spans 8.2 cm on the Rutgers combined linkage-physical map and contains 11.5 Mb. DFNB55 represents the third ARNSHI locus mapped to chromosome 4.

Entities:  

Mesh：

Year:  2005        PMID： 16098016      PMCID： PMC2910366          DOI： 10.1111/j.1399-0004.2005.00492.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  26 in total

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  2 in total

Review 1.  Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

Authors:  Anushree Acharya; Isabelle Schrauwen; Suzanne M Leal
Journal:  Hum Genet       Date:  2021-07-22       Impact factor: 4.132

2.  Quantitative trait loci on chromosome 5 for susceptibility to frequency-specific effects on hearing in DBA/2J mice.

Authors:  Sari Suzuki; Masashi Ishikawa; Takuya Ueda; Yasuhiro Ohshiba; Yuki Miyasaka; Kazuhiro Okumura; Michinari Yokohama; Choji Taya; Kunie Matsuoka; Yoshiaki Kikkawa
Journal:  Exp Anim       Date:  2015-03-10
  2 in total

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