Literature DB >> 9286457

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.

A Chen1, S Wayne, A Bell, A Ramesh, C R Srisailapathy, D A Scott, V C Sheffield, P Van Hauwe, R I Zbar, J Ashley, M Lovett, G Van Camp, R J Smith.   

Abstract

Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of prelingual inherited hearing impairment. A small consanguineous family with this disorder was ascertained through the Institute of Basic Medical Sciences in Madras, India. Conditions such as rubella, prematurity, drug use during pregnancy, perinatal trauma, and meningitis were eliminated by history. Audiometry was performed to confirm severe-to-profound hearing impairment in affected persons. After excluding linkage to known DFNB genes, two genomic DNA pools, one from the affected persons and the other from their non-affected siblings and the parents, were used to screen 165 polymorphic markers evenly spaced across the autosomal human genome. Two regions showing homozygosity-by-descent in the affected siblings were identified on chromosomes 3q21.3-q25.2 and 19p13.3-p13.1, identifying one (or possibly both) as the site of a novel ARNSHL gene.

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Year:  1997        PMID: 9286457

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  12 in total

1.  Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.

Authors:  M C Lanasa; W A Hogge; C Kubik; J Blancato; E P Hoffman
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

Review 2.  Endogamy, consanguinity and community genetics.

Authors:  A H Bittles
Journal:  J Genet       Date:  2002-12       Impact factor: 1.166

3.  A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.

Authors:  Muhammad Aslam; Muhammad Wajid; Maria H Chahrour; Muhammad Ansar; Sayedul Haque; Thanh L Pham; Regie P Santos; Kai Yan; Wasim Ahmad; Suzanne M Leal
Journal:  Am J Med Genet A       Date:  2005-02-15       Impact factor: 2.802

4.  DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

Authors:  Regie Lyn P Santos; Muhammad Jawad Hassan; Shaheen Sikandar; Kwanghyuk Lee; Ghazanfar Ali; Protacio E Martin; Michael Angelo L Wambangco; Wasim Ahmad; Suzanne M Leal
Journal:  Hum Genet       Date:  2006-05-16       Impact factor: 4.132

5.  Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

Authors:  Atteeq U Rehman; Khitab Gul; Robert J Morell; Kwanghyuk Lee; Zubair M Ahmed; Saima Riazuddin; Rana A Ali; Mohsin Shahzad; Ateeq-Ul Jaleel; Paula B Andrade; Shaheen N Khan; Saadullah Khan; Carmen C Brewer; Wasim Ahmad; Suzanne M Leal; Sheikh Riazuddin; Thomas B Friedman
Journal:  Hum Genet       Date:  2011-06-10       Impact factor: 4.132

6.  A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

Authors:  Saima Siddiqi; Muhammad Ismail; Jaap Oostrik; Saba Munawar; Atika Mansoor; Hannie Kremer; Raheel Qamar; Margit Schraders
Journal:  J Hum Genet       Date:  2014-10-09       Impact factor: 3.172

7.  A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

Authors:  Daniel R Jensen; Donna M Martin; Stephen Gebarski; Trilochan Sahoo; Ellen K Brundage; A Craig Chinault; Edgar A Otto; Moumita Chaki; Friedhelm Hildebrandt; Sau Wai Cheung; Marci M Lesperance
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

8.  The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Authors:  Quratul Ain; Sabiha Nazli; Saima Riazuddin; Ateeq-ul Jaleel; S Amer Riazuddin; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Andrew J Griffith; Zubair M Ahmed; Thomas B Friedman; Sheikh Riazuddin
Journal:  Hum Genet       Date:  2007-08-10       Impact factor: 4.132

Review 9.  Autosomal recessive nonsyndromic deafness genes: a review.

Authors:  Duygu Duman; Mustafa Tekin
Journal:  Front Biosci (Landmark Ed)       Date:  2012-06-01

10.  Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Authors:  Nikoletta Charizopoulou; Andrea Lelli; Margit Schraders; Kausik Ray; Michael S Hildebrand; Arabandi Ramesh; C R Srikumari Srisailapathy; Jaap Oostrik; Ronald J C Admiraal; Harold R Neely; Joseph R Latoche; Richard J H Smith; John K Northup; Hannie Kremer; Jeffrey R Holt; Konrad Noben-Trauth
Journal:  Nat Commun       Date:  2011-02-15       Impact factor: 14.919

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