Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/2920
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Type: Journal article
Title: X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
Author: Gedeon, A.
Nelson, J.
Gecz, J.
Mulley, J.
Citation: American Journal of Medical Genetics. Part A, 2003; 120A(4):509-517
Publisher: Wiley-Liss
Issue Date: 2003
ISSN: 1552-4825
1552-4833
Statement of
Responsibility: 
Gedeon, Agi K.; Nelson, John; Gécz, Jozef; Mulley, John C.
Abstract: We describe a family of 19 males in five generations with mild to borderline non-syndromic X-linked mental retardation (MRX). There were no clinical manifestations in the affected males other than mental impairment and relatively long ears, with neuropsychiatric problems in some cases. Linkage analysis carried out on part of the pedigree using 34 markers spanning the X chromosome localized the gene between DXS454 and DXS1001 in Xq23. The maximum two-point lod score was 3.21 at DXS1059. PAK3 is a known MRX gene mapping to the same region. The affected males and obligate carrier females were found to have a missense mutation c.1094C > A in exon 10 causing an A365E substitution in a highly conserved region of the protein. The C to A base change abolishes a PvuII restriction enzyme site providing the basis for a simple test, if required, for carrier detection and prenatal diagnosis in the extended family.
Keywords: Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; Syndrome; Protein-Serine-Threonine Kinases; Genetic Markers; Chromosome Mapping; Heterozygote Detection; Pedigree; Mental Disorders; Lod Score; Mutation, Missense; Adult; Middle Aged; Child; Child, Preschool; Female; Male; p21-Activated Kinases
RMID: 0020030081
DOI: 10.1002/ajmg.a.20131
Appears in Collections:Molecular and Biomedical Science publications

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