A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

J. J. Assink; N. T. Tijmes; J. B. ten Brink; R. J. Oostra; F. C. Riemslag; P. T. de Jong; A. A. Bergen

doi:https://doi.org/10.1086/514884

A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

J. J. Assink, N. T. Tijmes, J. B. ten Brink, R. J. Oostra, F. C. Riemslag, P. T. de Jong, A. A. Bergen

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Abstract

The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination. A DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene. Linkage analysis was performed with 26 markers that spanned the entire X chromosome. The affected males showed very early onset and slow progression of the disease. Ophthalmic study of the female carriers did not reveal any abnormalities. Close linkage without recombination was found at the MAOB locus (maximum LOD score [Zmax] 4.19). The Zmax - 1 support interval was found at a recombination fraction of .076 distal and .018 proximal to MAOB. Multipoint linkage analysis placed the optic atrophy-causing gene in the Xp11.4-p11.21 interval between markers DXS993 and DXS991, whereas any other localization along the X chromosome could be excluded

Original language	English
Pages (from-to)	934-939
Journal	American journal of human genetics
Volume	61
Issue number	4
DOIs	https://doi.org/10.1086/514884
Publication status	Published - 1997

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https://doi.org/10.1086/514884

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@article{ae8e9d8de13d40beb1f2add40d9b315f,

title = "A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome",

abstract = "The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination. A DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene. Linkage analysis was performed with 26 markers that spanned the entire X chromosome. The affected males showed very early onset and slow progression of the disease. Ophthalmic study of the female carriers did not reveal any abnormalities. Close linkage without recombination was found at the MAOB locus (maximum LOD score [Zmax] 4.19). The Zmax - 1 support interval was found at a recombination fraction of .076 distal and .018 proximal to MAOB. Multipoint linkage analysis placed the optic atrophy-causing gene in the Xp11.4-p11.21 interval between markers DXS993 and DXS991, whereas any other localization along the X chromosome could be excluded",

author = "Assink, {J. J.} and Tijmes, {N. T.} and {ten Brink}, {J. B.} and Oostra, {R. J.} and Riemslag, {F. C.} and {de Jong}, {P. T.} and Bergen, {A. A.}",

year = "1997",

doi = "https://doi.org/10.1086/514884",

language = "English",

volume = "61",

pages = "934--939",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

TY - JOUR

T1 - A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

AU - Assink, J. J.

AU - Tijmes, N. T.

AU - ten Brink, J. B.

AU - Oostra, R. J.

AU - Riemslag, F. C.

AU - de Jong, P. T.

AU - Bergen, A. A.

PY - 1997

Y1 - 1997

N2 - The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination. A DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene. Linkage analysis was performed with 26 markers that spanned the entire X chromosome. The affected males showed very early onset and slow progression of the disease. Ophthalmic study of the female carriers did not reveal any abnormalities. Close linkage without recombination was found at the MAOB locus (maximum LOD score [Zmax] 4.19). The Zmax - 1 support interval was found at a recombination fraction of .076 distal and .018 proximal to MAOB. Multipoint linkage analysis placed the optic atrophy-causing gene in the Xp11.4-p11.21 interval between markers DXS993 and DXS991, whereas any other localization along the X chromosome could be excluded

AB - The aim of this study was to identify the chromosomal location of the disease-causing gene in a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination. A DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene. Linkage analysis was performed with 26 markers that spanned the entire X chromosome. The affected males showed very early onset and slow progression of the disease. Ophthalmic study of the female carriers did not reveal any abnormalities. Close linkage without recombination was found at the MAOB locus (maximum LOD score [Zmax] 4.19). The Zmax - 1 support interval was found at a recombination fraction of .076 distal and .018 proximal to MAOB. Multipoint linkage analysis placed the optic atrophy-causing gene in the Xp11.4-p11.21 interval between markers DXS993 and DXS991, whereas any other localization along the X chromosome could be excluded

U2 - https://doi.org/10.1086/514884

DO - https://doi.org/10.1086/514884

M3 - Article

C2 - 9382106

SN - 0002-9297

VL - 61

SP - 934

EP - 939

JO - American journal of human genetics

JF - American journal of human genetics

IS - 4

ER -