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A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Rejeb I,Ben Jemaa L,Abaied L,Kraoua L,Saillour Y,Maazoul F,Chelly J,Chaabouni H

doi

10.1016/j.ejmg.2011.01.010

subject

Has Abstract

pub_date

2011-05-01 00:00:00

pages

241-6

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00017-6

journal_volume

54

pub_type

杂志文章

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