LETTER TO JMG

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

T Bienvenu¹, K Poirier¹, H Van Esch^1,4, B Hamel², C Moraine³, J P Fryns⁴, H H Ropers⁵, C Beldjord¹, H G Yntema², J Chelly¹

¹ Institut Cochin - INSERM U567, Université Paris V René Descartes, IFR116, 24 rue du Fbg St Jacques, 75014 Paris, France
² Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
³ Service de Génétique - INSERM U316, CHU Bretonneau, Tours, France
⁴ Centre for Human Genetics, Clinical Genetics Unit, Leuven, Belgium
⁵ Max Planck Institut für Molekulare Genetik, Berlin, Germany

Correspondence to:
Correspondence to:
Dr T Bienvenu, Institut Cochin - INSERM U567, Université Paris V René Descartes, IFR116, 24 rue du Fbg St Jacques, 75014 Paris, France;
kpoirier@cochin.inserm.fr

Keywords: AGTR2 gene; non-specific mental retardation; X linked mental retardation

The first 150 words of the full text of this article appear below.

Mental retardation (MR) is a frequent cause of serious handicap in children and young adults. It is defined as an overall intelligence quotient (IQ) lower than 70 associated with functional deficits in adaptive behaviour (such as daily living skills, social skills, and communication), with an onset before 18 years.^1,2 Moderate to severe MR (IQ<50) is estimated to affect 0.4–0.8% of the population and the prevalence increases to 2% if mild MR (50<IQ<70) is included, although these estimates vary widely between different epidemiological studies.² The underlying causes of MR are extremely heterogeneous. They include non-genetic factors, which act prenatally or during early infancy and cause brain injury, as well as established genetic causes. The prevalence of X linked mental retardation (XLMR) has been estimated as 1.8/1000 males with a carrier frequency of 2.4/1000 females.³ Historically, XLMR is classified as syndromic (MRXS) or as non-specific forms (MRX). Recently, absence of expression of . . . [Full text of this article]

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