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X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Clin Genet. 2005 Jun; 67(6):451-67.CG

Abstract

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.

Authors+Show Affiliations

Department of Human Genetics, Radboud University Medical Center Nijmegen, the Netherlands.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

15857409

Citation

Kleefstra, T, and B C J. Hamel. "X-linked Mental Retardation: Further Lumping, Splitting and Emerging Phenotypes." Clinical Genetics, vol. 67, no. 6, 2005, pp. 451-67.
Kleefstra T, Hamel BC. X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clin Genet. 2005;67(6):451-67.
Kleefstra, T., & Hamel, B. C. (2005). X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clinical Genetics, 67(6), 451-67.
Kleefstra T, Hamel BC. X-linked Mental Retardation: Further Lumping, Splitting and Emerging Phenotypes. Clin Genet. 2005;67(6):451-67. PubMed PMID: 15857409.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - X-linked mental retardation: further lumping, splitting and emerging phenotypes. AU - Kleefstra,T, AU - Hamel,B C J, PY - 2005/4/29/pubmed PY - 2005/8/13/medline PY - 2005/4/29/entrez SP - 451 EP - 67 JF - Clinical genetics JO - Clin Genet VL - 67 IS - 6 N2 - 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. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/15857409/X_linked_mental_retardation:_further_lumping_splitting_and_emerging_phenotypes_ L2 - https://doi.org/10.1111/j.1399-0004.2005.00434.x DB - PRIME DP - Unbound Medicine ER -