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127597.0 Automatic journal name synchronization 10.07.2004 20:00 Released

ID: 127597.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation
Authors:Gomot, Marie; Gendrot, Chantal; Verloes, Alain; Raynaud, Martine; David, Albert; Yntema, Helger G.; Dessay, Sabine; Kalscheuer, Vera; Frints, Suzanne; Convert, Philippe; Briault, Sylvain; Blesson, Sophie; Toutain, Annick; Chelly, Jamel; Desportes, Vincent; Moraine, Claude
Date of Publication (YYYY-MM-DD):2003-12-01
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am. J. Med. Genet. A
Issue / Number:2
Start Page:129
End Page:139
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:XLMR; MECP2; phenotype-genotype correlation; mental retardation; Rett syndrome
Comment of the Author/Creator:Date: 2003, Dec 1
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:CHU Bretonneau, Serv Genet, INSERM, U316, F-37044 Tours, France.; Dept Human Genet, NL-417 Nijmegen, Netherlands.; Hop Robert Debre, Dept Genet, F-75019 Paris, France.; CHU Nantes, Dept Genet, F-44035 Nantes 01, France.; Max Planck Inst Mol Genet, Berlin, Germany.; Ctr Human Genet, Louvain, Belgium.; Univ Paris 05, GDPM, Inst Cochin, INSERM,CNRS, Paris, France.
Identifiers:ISI:000186612500002 [ID No:1]
ISSN:0148-7299 [ID No:2]
DOI:10.1002/ajmg.a.20247 [ID No:3]