TY - JOUR
T1 - A locus for bilateral perisylvian polymicrogyria maps to Xq28
AU - Villard, Laurent
AU - Nguyen, Karine
AU - Cardoso, Carlos
AU - Martin, Christa Lese
AU - Weiss, Ann M.
AU - Sifry-Platt, Mara
AU - Grix, Arthur W.
AU - Graham, John M.
AU - Winter, Robin M.
AU - Leventer, Richard J.
AU - Dobyns, William B.
PY - 2002
Y1 - 2002
N2 - Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as "bilateral perisylvian polymicrogyria" (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG.
AB - Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as "bilateral perisylvian polymicrogyria" (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG.
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U2 - 10.1086/339433
DO - 10.1086/339433
M3 - Article
C2 - 11822025
AN - SCOPUS:0036201466
SN - 0002-9297
VL - 70
SP - 1003
EP - 1008
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -