Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Asif Mir; Muhammad Ansar; Maria H. Chahrour; Thanh L. Pham; Muhammad Wajid; Sayedul Haque; Kai Yan; Wasim Ahmad; Suzanne M. Leal

doi:10.1002/ajmg.a.30516

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Asif Mir, Muhammad Ansar, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Sayedul Haque, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.

Original language	English (US)
Pages (from-to)	23-26
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	133 A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.30516
State	Published - Feb 15 2005

Keywords

18p11.32-p11.31
DFNB19
DFNB46
Nonsyndromic deafness
Pakistan

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1002/ajmg.a.30516

Cite this

@article{b7e7e96c3aa14b829c8b4af34ce1bd22,

title = "Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31",

abstract = "Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.",

keywords = "18p11.32-p11.31, DFNB19, DFNB46, Nonsyndromic deafness, Pakistan",

author = "Asif Mir and Muhammad Ansar and Chahrour, {Maria H.} and Pham, {Thanh L.} and Muhammad Wajid and Sayedul Haque and Kai Yan and Wasim Ahmad and Leal, {Suzanne M.}",

year = "2005",

month = feb,

day = "15",

doi = "10.1002/ajmg.a.30516",

language = "English (US)",

volume = "133 A",

pages = "23--26",

journal = "American Journal of Medical Genetics",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "1",

}

TY - JOUR

T1 - Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

AU - Mir, Asif

AU - Ansar, Muhammad

AU - Chahrour, Maria H.

AU - Pham, Thanh L.

AU - Wajid, Muhammad

AU - Haque, Sayedul

AU - Yan, Kai

AU - Ahmad, Wasim

AU - Leal, Suzanne M.

PY - 2005/2/15

Y1 - 2005/2/15

N2 - Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.

AB - Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32-p11.31 in a five-generation Pakistani family. A 10 cM genome-wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three-unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence-based physical map.

KW - 18p11.32-p11.31

KW - DFNB19

KW - DFNB46

KW - Nonsyndromic deafness

KW - Pakistan

UR - http://www.scopus.com/inward/record.url?scp=12944286498&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=12944286498&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30516

DO - 10.1002/ajmg.a.30516

M3 - Article

C2 - 15637723

AN - SCOPUS:12944286498

SN - 1552-4825

VL - 133 A

SP - 23

EP - 26

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1

ER -

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this