Literature DB >> 21181198

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Sulman Basit1, Kwanghyuk Lee, Rabia Habib, Leon Chen, Regie Lyn P Santos-Cortez, Zahid Azeem, Paula Andrade, Muhammad Ansar, Wasim Ahmad, Suzanne M Leal.   

Abstract

DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to the region was established by carrying out genome-wide linkage scans in two unrelated, consanguineous Pakistani families segregating ARNSHI. The maximum multipoint LOD score is 9.7 for both families and for each family, a significant maximum LOD score of 6.0 and 3.7 were obtained. The 3-unit support interval and the region of homozygosity for the two families extend from rs717293 (chr16: 62.1 Mb) to rs728929 (chr16: 78.2 Mb) and contain 16.1 Mb of sequence. A total of 146 genes are within the DFNB89 interval. Eight candidate genes, CALB2, CDH1, CDH3, CDH11, HAS3, NOB1, PLEKHG4 and SMPD3, were sequenced, but no potentially causal variants were discovered. DFNB89 is the second ARNSHI locus mapped to chromosome 16.

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Mesh：

Year:  2010        PMID： 21181198      PMCID： PMC3312604          DOI： 10.1007/s00439-010-0934-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  23 in total

1.  Primer3 on the WWW for general users and for biologist programmers.

Authors:  S Rozen; H Skaletsky
Journal:  Methods Mol Biol       Date:  2000

2.  An original inner ear neuroepithelial degeneration in a deaf Rottweiler puppy.

Authors:  A G Coppens; R Kiss; C W Heizmann; P Deltenre; L Poncelet
Journal:  Hear Res       Date:  2001-11       Impact factor: 3.208

3.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

4.  Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Authors:  J M Bork; L M Peters; S Riazuddin; S L Bernstein; Z M Ahmed; S L Ness; R Polomeno; A Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Z Ahmed; S N Khan; V M Kaloustian; X C Li; A Lalwani; S Riazuddin; M Bitner-Glindzicz; W E Nance; X Z Liu; G Wistow; R J Smith; A J Griffith; E R Wilcox; T B Friedman; R J Morell
Journal:  Am J Hum Genet       Date:  2000-11-21       Impact factor: 11.025

5.  Identification and ultrastructural localization of a calretinin-like calcium-binding protein (protein 10) in the guinea pig and rat inner ear.

Authors:  C J Dechesne; L Winsky; H N Kim; G Goping; T D Vu; R J Wenthold; D M Jacobowitz
Journal:  Brain Res       Date:  1991-09-27       Impact factor: 3.252

6.  Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.

Authors:  Satoko Abe; Toyomasa Katagiri; Akihiko Saito-Hisaminato; Shin-ichi Usami; Yasuhiro Inoue; Tatsuhiko Tsunoda; Yusuke Nakamura
Journal:  Am J Hum Genet       Date:  2002-12-06       Impact factor: 11.025

7.  A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.

Authors:  J Grimberg; S Nawoschik; L Belluscio; R McKee; A Turck; A Eisenberg
Journal:  Nucleic Acids Res       Date:  1989-10-25       Impact factor: 16.971

8.  Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

Authors:  Ingrid Zwaenepoel; Mirna Mustapha; Michel Leibovici; Elisabeth Verpy; Richard Goodyear; Xue Zhong Liu; Sylvie Nouaille; Walter E Nance; Moien Kanaan; Karen B Avraham; Fredj Tekaia; Jacques Loiselet; Marc Lathrop; Guy Richardson; Christine Petit
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-23       Impact factor: 11.205

9.  PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Authors:  Zubair M Ahmed; Saima Riazuddin; Jamil Ahmad; Steve L Bernstein; Yan Guo; Muhammad F Sabar; Paul Sieving; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Inna A Belyantseva; Edward R Wilcox
Journal:  Hum Mol Genet       Date:  2003-10-21       Impact factor: 6.150

10.  Cadherin-11 controls otolith assembly: evidence for extracellular cadherin activity.

Authors:  Sherry G Clendenon; Bijal Shah; Caroline A Miller; Glen Schmeisser; Amanda Walter; Vincent H Gattone; Kate F Barald; Qin Liu; James A Marrs
Journal:  Dev Dyn       Date:  2009-08       Impact factor: 3.780
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  4 in total

1.  Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Authors:  Regie Lyn P Santos-Cortez; Kwanghyuk Lee; Zahid Azeem; Patrick J Antonellis; Lana M Pollock; Saadullah Khan; Paula B Andrade-Elizondo; Ilene Chiu; Mark D Adams; Sulman Basit; Joshua D Smith; Deborah A Nickerson; Brian M McDermott; Wasim Ahmad; Suzanne M Leal
Journal:  Am J Hum Genet       Date:  2013-06-13       Impact factor: 11.025

Review 2.  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

3.  A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions.

Authors:  J Oikkonen; Y Huang; P Onkamo; L Ukkola-Vuoti; P Raijas; K Karma; V J Vieland; I Järvelä
Journal:  Mol Psychiatry       Date:  2014-03-11       Impact factor: 15.992

4.  Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America.

Authors:  Adriana Vargas; Jorge Rojas; Ivan Aivasovsky; Sergio Vergara; Marianna Castellanos; Carolina Prieto; Luis Celis
Journal:  Genes (Basel)       Date:  2020-11-29       Impact factor: 4.096
  4 in total

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