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  Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

Cossée, M., Demeer, B., Blanchet, P., Echenne, B., Singh, D., Hagens, O., et al. (2006). Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics, 14(4), 418-425. doi:10.1038/sj.ejhg.5201593.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-848B-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-848C-8
Genre: Journal Article
Alternative Title : Eur. J. Hum. Genet.

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 Creators:
Cossée, Mireille, Author
Demeer, Bénédicte, Author
Blanchet, Patricia, Author
Echenne, Bernard, Author
Singh, Deepika, Author
Hagens, Olivier1, Author              
Antin, Manuela, Author
Finck, Sonja, Author
Vallee, Louis, Author
Dollfus, Hélène, Author
Hegde, Sridevi, Author
Springell, Kelly, Author
Thelma, B. K ., Author
Woods, Geoffrey, Author
Kalscheuer, Vera M.2, Author              
Mandel, Jean-Louis, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: X-linked MR, PQBP1, mutations
 Abstract: Mutations in PQBP1 were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). Clinical features frequently associated with MR were microcephaly and/or short stature. The predominant mutations detected so far affect a stretch of six AG dinucleotides in the polar-amino-acid-rich domain (PRD), causing frameshifts in the fourth coding exon. We searched for PQBP1 exon 4 frameshifts in 57 mentally retarded males in whom initial referral description indicated at least one of the following criteria: microcephaly, short stature, spastic paraplegia or family history compatible with XLMR, and in 772 mentally retarded males not selected for specific clinical features or family history. We identified a novel frameshift mutation (23 bp deletion) in two half-brothers with specific clinical features, and performed prenatal diagnosis in this family. We also found two different 21 bp in-frame deletions (c.334–354del(21 bp) and c.393–413del(21 bp)) in four unrelated probands from various ethnic origins, each deleting one of five copies of an imperfect seven amino-acid repeat. Although such deletions have not been detected in 1180 X chromosomes from European controls, the c. 334–354del(21 bp) was subsequently found in two of 477 Xs from Indian controls. We conclude that pathogenic frameshift mutations in PQBP1 are rare in mentally retarded patients lacking specific associated signs and that the 21 bp in-frame deletions may be non-pathogenic, or alternatively could act subtly on PQBP1 function. This touches upon a common dilemma in XLMR, that is, how to distinguish between mutations and variants that may be non-pathogenic or represent risk factors for cognitive impairment.

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Language(s): eng - English
 Dates: 2006-02-22
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 307435
DOI: 10.1038/sj.ejhg.5201593
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Title: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics
  Alternative Title : Eur. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 14 (4) Sequence Number: - Start / End Page: 418 - 425 Identifier: ISSN: 1018-4813