Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

Wasim Ahmad; Sara Noci; Mohammad Faiyaz Ul Haque; Tiziana Sarno; Paolo Aridon; M. Maqbool Ahmad; Muhammad Amin-ud-din; Muhammad Arshad Rafiq; Saeed Ul Haque; Maurizio De Fusco; Andrea Ballabio; Brunella Franco; Giorgio Casari

doi:10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

Wasim Ahmad, Sara Noci, Mohammad Faiyaz Ul Haque, Tiziana Sarno, Paolo Aridon, M. Maqbool Ahmad, Muhammad Amin-ud-din, Muhammad Arshad Rafiq, Saeed Ul Haque, Maurizio De Fusco, Andrea Ballabio, Brunella Franco, Giorgio Casari

IRCCS Ospedale San Raffaele

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

Abstract

Nonspecific X-linked mental retardation is a nonprogressive, genetically heterogeneous condition that affects cognitive function in the absence of other distinctive clinical manifestations. We report here linkage data on a large Pakistani family affected by a form of X-linked nonspecific mental retardation. X chromosome genotyping of family members and linkage analysis allowed the identification of a new disease locus, MRX53. The defined critical region spans approximately 15 cM between DXS1210 and DXS1047 in Xq22.2-26. A LOD score value of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081.

Original language	English
Pages (from-to)	62-65
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	100
Issue number	1
DOIs	https://doi.org/10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H
Publication status	Published - Apr 15 2001

Keywords

Linkage mapping
Nonspecific mental retardation
X chromosome

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H

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Ahmad, W., Noci, S., Haque, M. F. U., Sarno, T., Aridon, P., Maqbool Ahmad, M., Amin-ud-din, M., Rafiq, M. A., Haque, S. U., De Fusco, M., Ballabio, A., Franco, B., & Casari, G. (2001). Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. American Journal of Medical Genetics, 100(1), 62-65. https://doi.org/10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H

Ahmad, W, Noci, S, Haque, MFU, Sarno, T, Aridon, P, Maqbool Ahmad, M, Amin-ud-din, M, Rafiq, MA, Haque, SU, De Fusco, M, Ballabio, A, Franco, B & Casari, G 2001, 'Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family', American Journal of Medical Genetics, vol. 100, no. 1, pp. 62-65. https://doi.org/10.1002/1096-8628(20010415)100:1<62::AID-AJMG1190>3.0.CO;2-H

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abstract = "Nonspecific X-linked mental retardation is a nonprogressive, genetically heterogeneous condition that affects cognitive function in the absence of other distinctive clinical manifestations. We report here linkage data on a large Pakistani family affected by a form of X-linked nonspecific mental retardation. X chromosome genotyping of family members and linkage analysis allowed the identification of a new disease locus, MRX53. The defined critical region spans approximately 15 cM between DXS1210 and DXS1047 in Xq22.2-26. A LOD score value of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081.",

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AU - Ahmad, Wasim

AU - Noci, Sara

AU - Haque, Mohammad Faiyaz Ul

AU - Sarno, Tiziana

AU - Aridon, Paolo

AU - Maqbool Ahmad, M.

AU - Amin-ud-din, Muhammad

AU - Rafiq, Muhammad Arshad

AU - Haque, Saeed Ul

AU - De Fusco, Maurizio

AU - Ballabio, Andrea

AU - Franco, Brunella

AU - Casari, Giorgio

PY - 2001/4/15

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N2 - Nonspecific X-linked mental retardation is a nonprogressive, genetically heterogeneous condition that affects cognitive function in the absence of other distinctive clinical manifestations. We report here linkage data on a large Pakistani family affected by a form of X-linked nonspecific mental retardation. X chromosome genotyping of family members and linkage analysis allowed the identification of a new disease locus, MRX53. The defined critical region spans approximately 15 cM between DXS1210 and DXS1047 in Xq22.2-26. A LOD score value of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081.

AB - Nonspecific X-linked mental retardation is a nonprogressive, genetically heterogeneous condition that affects cognitive function in the absence of other distinctive clinical manifestations. We report here linkage data on a large Pakistani family affected by a form of X-linked nonspecific mental retardation. X chromosome genotyping of family members and linkage analysis allowed the identification of a new disease locus, MRX53. The defined critical region spans approximately 15 cM between DXS1210 and DXS1047 in Xq22.2-26. A LOD score value of 3.34 at no recombination was obtained with markers DXS1072 and DXS8081.

KW - Linkage mapping

KW - Nonspecific mental retardation

KW - X chromosome

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Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

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Keywords

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