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  MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation

Gomot, M., Gendrot, C., Verloes, A., Raynaud, M., David, A., Yntema, H. G., et al. (2003). MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation. American Journal of Medical Genetics Part A, 123A(2), 129-139. doi:10.1002/ajmg.a.20247.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8950-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8951-2
Genre: Journal Article
Alternative Title : Am. J. Med. Genet. A

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 Creators:
Gomot, Marie, Author
Gendrot, Chantal, Author
Verloes, Alain, Author
Raynaud, Martine, Author
David, Albert, Author
Yntema, Helger G., Author
Dessay, Sabine, Author
Kalscheuer, Vera1, Author              
Frints, Suzanne, Author
Convert, Philippe, Author
Briault, Sylvain, Author
Blesson, Sophie, Author
Toutain, Annick, Author
Chelly, Jamel, Author
Desportes, Vincent, Author
Moraine, Claude, Author
Affiliations:
1Chromosome 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: XLMR; MECP2; phenotype-genotype correlation; mental retardation; Rett syndrome
 Abstract: Non-syndromic X-linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syndrome (RTT), an X-linked dominant condition mostly sporadic and usually lethal in males, most affected females have been shown to be mutated in the Methyl-CpG binding protein 2 gene (MECP2) that maps at Xq28. Some mentally retarded males related to RTT females carry the same mutation. Several MRX families mapping to Xq28 were subsequently tested for MECP2 and a causative mutation was discovered in three families, suggesting that it could be one of the main genes involved in MRX. We report here the corresponding phenotypes in these three families of increasing severity. In family 1, an in-frame deletion P387-M466 was found in the 3 region. The patients had severe to mild non-progressive MR, with better motor skills than verbal abilities. In family 2, an Arg to Trp substitution (R167W) was found between the transcription repression domain (TRD) and the methyl binding domain (MBD). The patients had brisk reflexes and essential tremor with mild and non-progressive MR, poor motor co-ordination and written language difficulties. In the third family (MRX16), a Glu to Gly substitution (E137G) was found in the MBD. The patients had manifestations similar to those of family 2, but MR was mild to moderate, speech articulation was poor and some had verbal stereotypies. Regression of language skills was suspected in three patients. Phenotype-genotype correlation could thus be suspected and is discussed in these three families.

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Language(s): eng - English
 Dates: 2003-12-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 127597
ISI: 000186612500002
DOI: 10.1002/ajmg.a.20247
 Degree: -

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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am. J. Med. Genet. A
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 123A (2) Sequence Number: - Start / End Page: 129 - 139 Identifier: ISSN: 0148-7299