Literature DB >> 15641023

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

Muhammad Aslam1, Muhammad Wajid, Maria H Chahrour, Muhammad Ansar, Sayedul Haque, Thanh L Pham, Regie P Santos, Kai Yan, Wasim Ahmad, Suzanne M Leal.   

Abstract

A consanguineous family with autosomal recessive nonsyndromic hearing impairment (NSHI) was ascertained in Pakistan and displayed significant evidence of linkage to 3q13.31-q22.3. The novel locus (DFNB42) segregating in this kindred, maps to a 21.6 cM region according to a genetic map constructed using data from both the deCode and Marshfield genetic maps. This region of homozygosity is flanked by markers D3S1278 and D3S2453. A maximum multipoint LOD score of 3.72 was obtained at marker D3S4523. DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID： 15641023      PMCID： PMC2909096          DOI： 10.1002/ajmg.a.30508

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  21 in total

1.  Allegro, a new computer program for multipoint linkage analysis.

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Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

2.  Initial sequencing and analysis of the human genome.

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Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

3.  A high-resolution recombination map of the human genome.

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Journal:  Nat Genet       Date:  2002-06-10       Impact factor: 38.330

4.  A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.

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Journal:  Eur J Hum Genet       Date:  2001-03       Impact factor: 4.246

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6.  An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

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

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Journal:  Am J Med Genet       Date:  1997-09-05

8.  cDNA cloning and structural analysis of the human limbic-system-associated membrane protein (LAMP).

Authors:  A F Pimenta; I Fischer; P Levitt
Journal:  Gene       Date:  1996-05-08       Impact factor: 3.688

Review 9.  Genes responsible for human hereditary deafness: symphony of a thousand.

Authors:  C Petit
Journal:  Nat Genet       Date:  1996-12       Impact factor: 38.330

10.  Comprehensive human genetic maps: individual and sex-specific variation in recombination.

Authors:  K W Broman; J C Murray; V C Sheffield; R L White; J L Weber
Journal:  Am J Hum Genet       Date:  1998-09       Impact factor: 11.025
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  8 in total

1.  Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

Authors:  Zohreh Mehrjoo; Mojgan Babanejad; Kimia Kahrizi; Hossein Najmabadi
Journal:  J Genet       Date:  2015-09       Impact factor: 1.166

2.  Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Authors:  Guntram Borck; Atteeq Ur Rehman; Kwanghyuk Lee; Hans-Martin Pogoda; Naseebullah Kakar; Simon von Ameln; Nicolas Grillet; Michael S Hildebrand; Zubair M Ahmed; Gudrun Nürnberg; Muhammad Ansar; Sulman Basit; Qamar Javed; Robert J Morell; Nabilah Nasreen; A Eliot Shearer; Adeel Ahmad; Kimia Kahrizi; Rehan S Shaikh; Rana A Ali; Shaheen N Khan; Ingrid Goebel; Nicole C Meyer; William J Kimberling; Jennifer A Webster; Dietrich A Stephan; Martin R Schiller; Melanie Bahlo; Hossein Najmabadi; Peter G Gillespie; Peter Nürnberg; Bernd Wollnik; Saima Riazuddin; Richard J H Smith; Wasim Ahmad; Ulrich Müller; Matthias Hammerschmidt; Thomas B Friedman; Sheikh Riazuddin; Suzanne M Leal; Jamil Ahmad; Christian Kubisch
Journal:  Am J Hum Genet       Date:  2011-01-20       Impact factor: 11.025

Review 3.  Autosomal recessive nonsyndromic deafness genes: a review.

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

Review 4.  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

5.  A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.

Authors:  Thomas J Hoffmann; Bronya J Keats; Noriko Yoshikawa; Catherine Schaefer; Neil Risch; Lawrence R Lustig
Journal:  PLoS Genet       Date:  2016-10-20       Impact factor: 5.917

6.  Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.

Authors:  Jernej Kovač; Gašper Klančar; Katarina Trebušak Podkrajšek; Saba Battelino
Journal:  Front Genet       Date:  2017-06-30       Impact factor: 4.599

7.  A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

Authors:  Xueling Wang; Longhao Wang; Hu Peng; Tao Yang; Hao Wu
Journal:  Neural Plast       Date:  2018-04-16       Impact factor: 3.599

8.  Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.

Authors:  Andries Paul Nagtegaal; Linda Broer; Nuno R Zilhao; Johanna Jakobsdottir; Charles E Bishop; Marco Brumat; Mark W Christiansen; Massimiliano Cocca; Yan Gao; Nancy L Heard-Costa; Daniel S Evans; Nathan Pankratz; Sheila R Pratt; T Ryan Price; Christopher Spankovich; Mary R Stimson; Karen Valle; Dragana Vuckovic; Helena Wells; Gudny Eiriksdottir; Erik Fransen; Mohammad Arfan Ikram; Chuang-Ming Li; W T Longstreth; Claire Steves; Guy Van Camp; Adolfo Correa; Karen J Cruickshanks; Paolo Gasparini; Giorgia Girotto; Robert C Kaplan; Michael Nalls; John M Schweinfurth; Sudha Seshadri; Nona Sotoodehnia; Gregory J Tranah; André G Uitterlinden; James G Wilson; Vilmundur Gudnason; Howard J Hoffman; Frances M K Williams; André Goedegebure
Journal:  Sci Rep       Date:  2019-10-23       Impact factor: 4.379
  8 in total

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