Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Literature DB >> 17066295

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Shahid Y Khan¹, Saima Riazuddin, Muhammad Tariq, Saima Anwar, Muhammad I Shabbir, S Amer Riazuddin, Shaheen N Khan, Tayyab Husnain, Zubair M Ahmed, Thomas B Friedman, Sheikh Riazuddin.

Abstract

A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at theta = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families define a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system.

Entities: Disease Gene

Mesh：

Year: 2006 PMID： 17066295 DOI： 10.1007/s00439-006-0275-1

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

21 in total

1. DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.

Authors: L Moynihan; M Houseman; V Newton; R Mueller; N Lench
Journal: Eur J Hum Genet Date: 1999 Feb-Mar Impact factor: 4.246

2. Faster linkage analysis computations for pedigrees with loops or unused alleles.

Authors: A A Schäffer
Journal: Hum Hered Date: 1996 Jul-Aug Impact factor: 0.444

3. KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential.

Authors: Daniel C Marcus; Tao Wu; Philine Wangemann; Paulo Kofuji
Journal: Am J Physiol Cell Physiol Date: 2002-02 Impact factor: 4.249

4. Comprehensive genome and transcriptome analysis of the 11q13 amplicon in human oral cancer and synteny to the 7F5 amplicon in murine oral carcinoma.

Authors: Xin Huang; Tony E Godfrey; William E Gooding; Kenneth S McCarty; Susanne M Gollin
Journal: Genes Chromosomes Cancer Date: 2006-11 Impact factor: 5.006

5. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome.

Authors: N Neyroud; F Tesson; I Denjoy; M Leibovici; C Donger; J Barhanin; S Fauré; F Gary; P Coumel; C Petit; K Schwartz; P Guicheney
Journal: Nat Genet Date: 1997-02 Impact factor: 38.330

6. KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

Authors: T Kharkovets; J P Hardelin; S Safieddine; M Schweizer; A El-Amraoui; C Petit; T J Jentsch
Journal: Proc Natl Acad Sci U S A Date: 2000-04-11 Impact factor: 11.205

7. Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro.

Authors: P Wangemann; J Liu; D C Marcus
Journal: Hear Res Date: 1995-04 Impact factor: 3.208

8. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.

Authors: M L Marazita; L M Ploughman; B Rawlings; E Remington; K S Arnos; W E Nance
Journal: Am J Med Genet Date: 1993-06-15

9. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Authors: Zubair M Ahmed; Tenesha N Smith; Saima Riazuddin; Tomoko Makishima; Manju Ghosh; Sirosh Bokhari; Puthezhath S N Menon; Dilip Deshmukh; Andrew J Griffith; Sheikh Riazuddin; Thomas B Friedman; Edward R Wilcox
Journal: Hum Genet Date: 2002-05-03 Impact factor: 4.132

10. Expression pattern of the FGF-related proto-oncogene int-2 suggests multiple roles in fetal development.

Authors: D G Wilkinson; S Bhatt; A P McMahon
Journal: Development Date: 1989-01 Impact factor: 6.868

12 in total

1. The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.

Authors: Majida Charif; Safaa Bounaceur; Omar Abidi; Halima Nahili; Hassan Rouba; Mostafa Kandil; Redouane Boulouiz; Abdelhamid Barakat
Journal: Mol Biol Rep Date: 2012-10-08 Impact factor: 2.316

Review 2. TPCs: Endolysosomal channels for Ca2+ mobilization from acidic organelles triggered by NAADP.

Authors: Michael X Zhu; Jianjie Ma; John Parrington; Antony Galione; A Mark Evans
Journal: FEBS Lett Date: 2010-02-14 Impact factor: 4.124

3. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

Authors: Saima Riazuddin; Zubair M Ahmed; Rashmi S Hegde; Shaheen N Khan; Idrees Nasir; Uzma Shaukat; Sheikh Riazuddin; John A Butman; Andrew J Griffith; Thomas B Friedman; Byung Yoon Choi
Journal: BMC Med Genet Date: 2011-02-09 Impact factor: 2.103

Review 4. The acid test: the discovery of two-pore channels (TPCs) as NAADP-gated endolysosomal Ca(2+) release channels.

Authors: Antony Galione; A Mark Evans; Jianjie Ma; John Parrington; Abdelilah Arredouani; Xiaotong Cheng; Michael X Zhu
Journal: Pflugers Arch Date: 2009-05-28 Impact factor: 3.657

5. A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.

Authors: Arunima Chatterjee; Rajeev Jalvi; Nishtha Pandey; R Rangasayee; Anuranjan Anand
Journal: Hum Genet Date: 2008-11-22 Impact factor: 4.132

Review 6. Autosomal recessive nonsyndromic deafness genes: a review.

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

7. Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt).

Authors: Timothy Erickson; Clive P Morgan; Jennifer Olt; Katherine Hardy; Elisabeth Busch-Nentwich; Reo Maeda; Rachel Clemens; Jocelyn F Krey; Alex Nechiporuk; Peter G Barr-Gillespie; Walter Marcotti; Teresa Nicolson
Journal: Elife Date: 2017-05-23 Impact factor: 8.140

Review 8. Calcium signaling via two-pore channels: local or global, that is the question.

Authors: Michael X Zhu; Jianjie Ma; John Parrington; Peter J Calcraft; Antony Galione; A Mark Evans
Journal: Am J Physiol Cell Physiol Date: 2009-12-16 Impact factor: 4.249

9. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Authors: Zubair M Ahmed; Saber Masmoudi; Ersan Kalay; Inna A Belyantseva; Mohamed Ali Mosrati; Rob W J Collin; Saima Riazuddin; Mounira Hmani-Aifa; Hanka Venselaar; Mayya N Kawar; Abdelaziz Tlili; Bert van der Zwaag; Shahid Y Khan; Leila Ayadi; S Amer Riazuddin; Robert J Morell; Andrew J Griffith; Ilhem Charfedine; Refik Caylan; Jaap Oostrik; Ahmet Karaguzel; Abdelmonem Ghorbel; Sheikh Riazuddin; Thomas B Friedman; Hammadi Ayadi; Hannie Kremer
Journal: Nat Genet Date: 2008-10-26 Impact factor: 38.330

10. Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

Authors: Ma Tabatabaiefar; F Alasti; M Montazer Zohour; L Shariati; E Farrokhi; Dd Farhud; Gv Camp; Mr Noori-Daloii; M Hashemzadeh Chaleshtori
Journal: Iran J Public Health Date: 2011-06-30 Impact factor: 1.429