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X‐linked mental retardation: further lumping, splitting and emerging phenotypes
Author(s) -
Kleefstra T,
Hamel BCJ
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00434.x
Subject(s) - phenotype , genetics , gene , mutation , developmental disorder , biology , medicine , autism , psychiatry
X‐linked mental retardation (XLMR) is a very heterogeneous condition, subdivided in two categories mainly based on clinical features: syndromic XLMR (MRXS) and non‐syndromic XLMR (MRX). Although it was thought that 20–25% of mental retardation (MR) in males was caused by monogenetic X‐linked factors, recent estimations are lower: in the range of 10–12%. The number of identified genes involved in XLMR has been rapidly growing in the past years. Subsequently, an increasing number of patients and families have been reported in which mutations in XLMR genes have been identified. It was observed previously, that mutations in several of XLMR genes can result in syndromic and in non‐syndromic phenotypes. This observation has been confirmed for the more recently identified genes. Therefore, in this review, focus has been given on the clinical data and on phenotype‐genotype correlations for those genes implicated in both non‐syndromic and syndromic XLMR.