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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
European Journal of Medical Genetics, Volume 54, No. 3, Year 2011
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Description
Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX genes) localized within defined genetic intervals represent a rational strategy to identify a genetic cause of the disorder.Here, we report a Tunisian family including 3 males with severe to mild mental retardation, short stature, lean body and microcephaly; we mapped the disease to a unique interval encompassing Xp21.1-Xq21.33 (with a maximum LOD score of 0.90). Subsequent mutation analysis of genes located in this interval allowed us to identify a truncating mutation in the PQBP1 gene. This mutation is an insertion of an adenosine residue in exon 5 (c.631insA).This frameshift insertion causes premature stop codon at amino acid position 226. The observed mutation was found in all males with MR in this family.Together with previously reported observations, our data further confirm that PQBP1 gene should be tested for males showing mental retardation, short stature, lean body and microcephaly. © 2011 Elsevier Masson SAS.
Authors & Co-Authors
Rejeb, Imen
Tunisia, Tunis
Faculté de Médecine de Tunis
Ben Jemâa, Lamia
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Abaied, Leila
Tunisia, Tunis
Faculté de Médecine de Tunis
Kraoua, Lilia
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Saillour, Yoann
France, Paris
Institut Cochin
Maâzoul, Faouzi
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Chelly, Jamel
France, Paris
Institut Cochin
Chaâbouni, Habiba Bouhamed
Tunisia, Tunis
Faculté de Médecine de Tunis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Statistics
Citations: 15
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1016/j.ejmg.2011.01.010
ISSN:
17697212
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health