DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22

Muhammad Ansar; Maria H. Chahrour; Mohammad Amin Ud Din; Muhammad Arshad; Sayedul Haque; Thanh L. Pham; Kai Yan; Wasim Ahmad; Suzanne M. Leal

doi:10.1159/000081446

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22

Muhammad Ansar, Maria H. Chahrour, Mohammad Amin Ud Din, Muhammad Arshad, Sayedul Haque, Thanh L. Pham, Kai Yan, Wasim Ahmad, Suzanne M. Leal

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

10 Scopus citations

Abstract

The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI account for ∼75% of hereditary cases. A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map.

Original language	English (US)
Pages (from-to)	195-199
Number of pages	5
Journal	Human Heredity
Volume	57
Issue number	4
DOIs	https://doi.org/10.1159/000081446
State	Published - 2004

Keywords

7p14.1-q11.22
DFNB44
Non-syndromic hearing impairment
Pakistan

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1159/000081446

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title = "DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22",

abstract = "The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI account for ∼75% of hereditary cases. A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map.",

keywords = "7p14.1-q11.22, DFNB44, Non-syndromic hearing impairment, Pakistan",

author = "Muhammad Ansar and Chahrour, {Maria H.} and {Amin Ud Din}, Mohammad and Muhammad Arshad and Sayedul Haque and Pham, {Thanh L.} and Kai Yan and Wasim Ahmad and Leal, {Suzanne M.}",

year = "2004",

doi = "10.1159/000081446",

language = "English (US)",

volume = "57",

pages = "195--199",

journal = "Human Heredity",

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AU - Ansar, Muhammad

AU - Chahrour, Maria H.

AU - Amin Ud Din, Mohammad

AU - Arshad, Muhammad

AU - Haque, Sayedul

AU - Pham, Thanh L.

AU - Yan, Kai

AU - Ahmad, Wasim

AU - Leal, Suzanne M.

PY - 2004

Y1 - 2004

N2 - The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI account for ∼75% of hereditary cases. A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map.

AB - The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI account for ∼75% of hereditary cases. A novel autosomal recessive NSHI locus, DFNB44, was mapped to a 20.9 cM genetic interval on chromosome 7p14.1-q11.22, according to the Marshfield genetic map, in a consanguineous Pakistani family. Multipoint linkage analysis resulted in a maximum LOD score of 5.0 at marker D7S1818. The 3-unit support interval ranged from marker D7S2209 to marker D7S2435, spanning a 30.1 Mb region on the sequence-based physical map.

KW - 7p14.1-q11.22

KW - DFNB44

KW - Non-syndromic hearing impairment

KW - Pakistan

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DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22

Abstract

Keywords

ASJC Scopus subject areas

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