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Title: Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
Authors: Frints, Suzanna G M ×
Jun, Lin
Fryns, Jean-Pierre
Devriendt, Koenraad
Teulingkx, Rudi
Van Den Berghe, Lut
De Vos, Bernice
Borghgraef, Martine
Chelly, Jamel
Des Portes, Vincent
Van Bokhoven, Hans
Hamel, Ben
Ropers, Hans-Hilger
Kalscheuer, Vera
Raynaud, Martine
Moraine, Claude
Marynen, Peter
Froyen, Guido #
Issue Date: Jun-2003
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:119 issue:3 pages:367-74
Abstract: We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification of a novel "Nuclear RNA export factor" (NXF) gene cluster on Xq22.1. Within this cluster, the NXF5 gene was interrupted with subsequent loss of gene expression. Hence, mutation analysis of the NXF5 and its neighboring homologue, the NXF2 gene was performed in 45 men with various forms of syndromic X-linked MR (XLMR) and in 70 patients with nonspecific XLMR. In the NXF5 gene four nucleotide changes: one intronic, two silent, and one missense (K23E), were identified. In the NXF2 gene two changes (one intronic and one silent) were found. Although none of these changes were causative mutations, we propose that NXF5 is a good candidate gene for this syndromic form of XLMR, given the suspected role of NXF proteins is within mRNA export/transport in neurons. Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Molecular Genetics Section (-)
Human Genome Laboratory
× corresponding author
# (joint) last author

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