Literature DB >> 18279434

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.

L M Peters1, R A Fridell, E T Boger, T B San Agustin, A C Madeo, A J Griffith, T B Friedman, R J Morell.   

Abstract

We ascertained a large North American family, LMG2, segregating progressive, non-syndromic, sensorineural hearing loss. A genome-wide scan identified significant evidence for linkage (maximum logarithm of the odds (LOD) score = 4.67 at theta = 0 for D4S398) to markers in a 5.7-cM interval on chromosome 4q12-13.1. The DFNA27 interval spans 8.85 Mb and includes at least 61 predicted and 8 known genes. We sequenced eight genes and excluded them as candidates for the DFNA27 gene.

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Year:  2008        PMID： 18279434     DOI： 10.1111/j.1399-0004.2008.00966.x

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


  6 in total

1.  Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.

Authors:  Yoko Nakano; Michael C Kelly; Atteeq U Rehman; Erich T Boger; Robert J Morell; Matthew W Kelley; Thomas B Friedman; Botond Bánfi
Journal:  Cell       Date:  2018-06-28       Impact factor: 41.582

2.  Gene Therapy in Mouse Models of Deafness and Balance Dysfunction.

Authors:  Lingyan Wang; J Beth Kempton; John V Brigande
Journal:  Front Mol Neurosci       Date:  2018-08-29       Impact factor: 5.639

3.  Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank.

Authors:  Helena R R Wells; Fatin N Zainul Abidin; Maxim B Freidin; Frances M K Williams; Sally J Dawson
Journal:  Sci Rep       Date:  2021-03-19       Impact factor: 4.379

4.  A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.

Authors:  Noluthando Manyisa; Isabelle Schrauwen; Leonardo Alves de Souza Rios; Shaheen Mowla; Cedrik Tekendo-Ngongang; Kalinka Popel; Kevin Esoh; Thashi Bharadwaj; Liz M Nouel-Saied; Anushree Acharya; Abdul Nasir; Edmond Wonkam-Tingang; Carmen de Kock; Collet Dandara; Suzanne M Leal; Ambroise Wonkam
Journal:  Genes (Basel)       Date:  2021-11-06       Impact factor: 4.141

Review 5.  Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction.

Authors:  Michelle L Hastings; John V Brigande
Journal:  Hear Res       Date:  2020-03-05       Impact factor: 3.208

6.  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
  6 in total

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