Literature DB >> 9653658

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

P K Jain1, A K Lalwani, X C Li, T L Singleton, T N Smith, A Chen, D Deshmukh, I C Verma, R J Smith, E R Wilcox.   

Abstract

Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguineous Indian family was mapped to chromosome 11p14-p15.1 defining a new locus, DFNB18. A maximum lod score of 4.4 at theta = 0 was obtained for the polymorphic micro-satellite marker D11S1888. Haplotype analysis localizes this gene between markers D11S1307 and D11S2368, which is approximately 1.6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene.

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Year:  1998        PMID： 9653658     DOI： 10.1006/geno.1998.5320

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  9 in total

1.  Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

Authors:  C Rivolta; E A Sweklo; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  2000-04-20       Impact factor: 11.025

2.  Genetics of deafness in India.

Authors:  Manju Ghosh; R Vijaya; Madhulika Kabra
Journal:  Indian J Pediatr       Date:  2004-06       Impact factor: 1.967

3.  Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Authors:  Margit Schraders; Laura Ruiz-Palmero; Ersan Kalay; Jaap Oostrik; Francisco J del Castillo; Orhan Sezgin; Andy J Beynon; Tim M Strom; Ronald J E Pennings; Celia Zazo Seco; Anne M M Oonk; Henricus P M Kunst; María Domínguez-Ruiz; Ana M García-Arumi; Miguel del Campo; Manuela Villamar; Lies H Hoefsloot; Felipe Moreno; Ronald J C Admiraal; Ignacio del Castillo; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2012-11-02       Impact factor: 11.025

Review 4.  A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Authors:  Jörg Seidel; Anita Heller; Gabriele Senger; Heike Starke; Ilse Chudoba; Christina Kelbova; Holger Tönnies; Heidemarie Neitzel; Claudia Haase; Volkmar Beensen; Felix Zintl; Uwe Claussen; Thomas Liehr
Journal:  Eur J Pediatr       Date:  2003-06-19       Impact factor: 3.183

Review 5.  Autosomal recessive nonsyndromic deafness genes: a review.

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

Review 6.  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

7.  Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.

Authors:  Kenneth R Johnson; Leona H Gagnon; Lisa S Webb; Luanne L Peters; Norman L Hawes; Bo Chang; Qing Yin Zheng
Journal:  Hum Mol Genet       Date:  2003-09-30       Impact factor: 6.150

Review 8.  Usher Syndrome: Genetics of a Human Ciliopathy.

Authors:  Carla Fuster-García; Belén García-Bohórquez; Ana Rodríguez-Muñoz; Elena Aller; Teresa Jaijo; José M Millán; Gema García-García
Journal:  Int J Mol Sci       Date:  2021-06-23       Impact factor: 5.923

9.  Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India.

Authors:  Pawan Kumar Singh; Manju Ghosh; Shipra Sharma; Shivaram Shastri; Neerja Gupta; Madhumita Roy Chowdhury; Anuranjan Anand; Madhulika Kabra
Journal:  Indian J Med Res       Date:  2017-04       Impact factor: 2.375
  9 in total

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