Literature DB >> 12890929

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.

Muhammad Ansar1, Mohammad Ramzan, Thanh L Pham, Kai Yan, Syed Muhammad Jamal, Sayedul Haque, Wasim Ahmad, Suzanne M Leal.   

Abstract

For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26-q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26-q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map. Copyright 2003 S. Karger AG, Basel

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Year:  2003        PMID: 12890929      PMCID: PMC2909108          DOI: 10.1159/000071813

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


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1.  Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.

Authors:  Sandesh Chakravarthy Sreenath Nagamani; Ayelet Erez; Christine Eng; Zhishuo Ou; Craig Chinault; Laura Workman; James Coldwell; Pawel Stankiewicz; Ankita Patel; James R Lupski; Sau Wai Cheung
Journal:  Eur J Hum Genet       Date:  2008-11-26       Impact factor: 4.246

2.  Two quantitative trait loci affecting progressive hearing loss in 101/H mice.

Authors:  Tomoji Mashimo; Alexandra E Erven; Sarah L Spiden; Jean-Louis Guénet; Karen P Steel
Journal:  Mamm Genome       Date:  2006-08-04       Impact factor: 2.957

Review 3.  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

Review 4.  The genetic and environmental factors for keratoconus.

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Journal:  Iran Red Crescent Med J       Date:  2016-08-07       Impact factor: 0.611

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