X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
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X-linked mental retardation : a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. / Jensen, Lars Riff; Lenzner, Steffen; Moser, Bettina; Freude, Karla Kristine; Tzschach, Andreas; Wei, Chen; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas Walter.
In: European Journal of Human Genetics, Vol. 15, No. 1, 2007, p. 68-75.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - X-linked mental retardation
T2 - a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
AU - Jensen, Lars Riff
AU - Lenzner, Steffen
AU - Moser, Bettina
AU - Freude, Karla Kristine
AU - Tzschach, Andreas
AU - Wei, Chen
AU - Fryns, Jean-Pierre
AU - Chelly, Jamel
AU - Turner, Gillian
AU - Moraine, Claude
AU - Hamel, Ben
AU - Ropers, Hans-Hilger
AU - Kuss, Andreas Walter
PY - 2007
Y1 - 2007
N2 - About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4 Mb interval flanked by the genes ELK1 and ALAS2. To search for these mutations, 47 brain-expressed candidate genes located in this interval have been screened for mutations in up to 22 mental retardation (MR) families linked to this region. In total, we have identified 57 sequence variants in exons and splice sites of 27 genes. Based on these data, four novel MR genes were identified, but most of the sequence variants observed during this study have not yet been described. The purpose of this article is to present a comprehensive overview of this work and its outcome. It describes all sequence variants detected in 548 exons and their flanking sequences, including disease-causing mutations as well as possibly relevant polymorphic and silent sequence changes. We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX.
AB - About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4 Mb interval flanked by the genes ELK1 and ALAS2. To search for these mutations, 47 brain-expressed candidate genes located in this interval have been screened for mutations in up to 22 mental retardation (MR) families linked to this region. In total, we have identified 57 sequence variants in exons and splice sites of 27 genes. Based on these data, four novel MR genes were identified, but most of the sequence variants observed during this study have not yet been described. The purpose of this article is to present a comprehensive overview of this work and its outcome. It describes all sequence variants detected in 548 exons and their flanking sequences, including disease-causing mutations as well as possibly relevant polymorphic and silent sequence changes. We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX.
KW - Blotting, Northern
KW - Cell Line
KW - Chromosomes, Human, X
KW - DNA Mutational Analysis
KW - Genes, X-Linked
KW - Humans
KW - Lymphocytes
KW - Male
KW - Mental Retardation, X-Linked
KW - Mutation
U2 - 10.1038/sj.ejhg.5201714
DO - 10.1038/sj.ejhg.5201714
M3 - Journal article
C2 - 16969374
VL - 15
SP - 68
EP - 75
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 1
ER -
ID: 138433929