{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:43:46Z","timestamp":1790754226634,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,5,29]],"date-time":"2003-05-29T00:00:00Z","timestamp":1054166400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Non\u2010syndromic X\u2010linked 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\u2010linked dominant condition mostly sporadic and usually lethal in males, most affected females have been shown to be mutated in the Methyl\u2013CpG binding protein 2 gene (<jats:italic>MECP2<\/jats:italic>) 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 <jats:italic>MECP2<\/jats:italic> 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\u2010frame deletion \u0394P387\u2010M466 was found in the 3\u2032 region. The patients had severe to mild non\u2010progressive 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\u2010progressive MR, poor motor co\u2010ordination 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\u2013genotype correlation could thus be suspected and is discussed in these three families. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20247","type":"journal-article","created":{"date-parts":[[2003,10,30]],"date-time":"2003-10-30T11:22:03Z","timestamp":1067512923000},"page":"129-139","source":"Crossref","is-referenced-by-count":33,"title":["<i>MECP2<\/i> gene mutations in non\u2010syndromic X\u2010linked mental retardation: Phenotype\u2013genotype 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