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

Shahid Y. Khan; 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

doi:10.1007/s00439-006-0275-1

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

Shahid Y. Khan, 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

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

22 Scopus citations

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 θ = 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 deWne 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.

Original language	English (US)
Pages (from-to)	789-793
Number of pages	5
Journal	Human genetics
Volume	120
Issue number	6
DOIs	https://doi.org/10.1007/s00439-006-0275-1
State	Published - Jan 2007
Externally published	Yes

Keywords

11q13.2-q13.3
DFNB63
Deafness
Pakistan

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/s00439-006-0275-1

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@article{de23a5e1099443cfb8226261799b1a9e,

title = "Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3",

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 θ = 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 deWne 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.",

keywords = "11q13.2-q13.3, DFNB63, Deafness, Pakistan",

author = "Khan, {Shahid Y.} and Saima Riazuddin and Muhammad Tariq and Saima Anwar and Shabbir, {Muhammad I.} and Riazuddin, {S. Amer} and Khan, {Shaheen N.} and Tayyab Husnain and Ahmed, {Zubair M.} and Friedman, {Thomas B.} and Sheikh Riazuddin",

note = "Funding Information: Acknowledgments The authors are grateful to the families who made this research possible. We are also thankful to Julie Schultz, Linda Peters, Byung-Yoon Choi, Rob Morell and Dennis Drayna for their suggestions regarding this manuscript. This study was supported by the Higher Education Commission, Islamabad, Pakistan; Ministry of Science and Technology, Islamabad, Pakistan and by the International Center for Genetic Engineering and Biotechnology, Trieste, Italy under project CRP/PAK02-01 (contract no. 02/013) and by intramural funds from the National Institute on Deafness and Other Communication Disorders, NIH (1 ZO1 DC000039-09).",

year = "2007",

month = jan,

doi = "10.1007/s00439-006-0275-1",

language = "English (US)",

volume = "120",

pages = "789--793",

journal = "Human Genetics",

issn = "0340-6717",

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T1 - Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3

AU - Khan, Shahid Y.

AU - Riazuddin, Saima

AU - Tariq, Muhammad

AU - Anwar, Saima

AU - Shabbir, Muhammad I.

AU - Riazuddin, S. Amer

AU - Khan, Shaheen N.

AU - Husnain, Tayyab

AU - Ahmed, Zubair M.

AU - Friedman, Thomas B.

AU - Riazuddin, Sheikh

N1 - Funding Information: Acknowledgments The authors are grateful to the families who made this research possible. We are also thankful to Julie Schultz, Linda Peters, Byung-Yoon Choi, Rob Morell and Dennis Drayna for their suggestions regarding this manuscript. This study was supported by the Higher Education Commission, Islamabad, Pakistan; Ministry of Science and Technology, Islamabad, Pakistan and by the International Center for Genetic Engineering and Biotechnology, Trieste, Italy under project CRP/PAK02-01 (contract no. 02/013) and by intramural funds from the National Institute on Deafness and Other Communication Disorders, NIH (1 ZO1 DC000039-09).

PY - 2007/1

Y1 - 2007/1

N2 - 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 θ = 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 deWne 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.

AB - 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 θ = 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 deWne 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.

KW - 11q13.2-q13.3

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KW - Deafness

KW - Pakistan

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AN - SCOPUS:33846386029

SN - 0340-6717

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JO - Human Genetics

JF - Human Genetics

IS - 6

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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