Premium
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
Author(s) -
Frints Suzanna G.M.,
Jun Lin,
Fryns JeanPierre,
Devriendt Koen,
Teulingkx Rudi,
Berghe Lut Van den,
Vos Bernice De,
Borghgraef Martine,
Chelly Jamel,
Portes Vincent Des,
Bokhoven Hans Van,
Hamel Ben,
Ropers HansHilger,
Kalscheuer Vera,
Raynaud Martine,
Moraine Claude,
Marynen Peter,
Froyen Guy
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20195
Subject(s) - short stature , genetics , missense mutation , biology , gene , x chromosome , gene mutation , mutation , endocrinology
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. © 2003 Wiley‐Liss, Inc.