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Murviel-lès-Montpellier, France

Tran Mau-Them F.,Ctr. de Ref. Maladies Rares Anomalies du Development et Syndromes Malformatifs Sud Languedoc Roussillon | Willems M.,Ctr. de Ref. Maladies Rares Anomalies du Development et Syndromes Malformatifs Sud Languedoc Roussillon | Albrecht B.,University of Duisburg - Essen | Sanchez E.,Ctr. de Ref. Maladies Rares Anomalies du Development et Syndromes Malformatifs Sud Languedoc Roussillon | And 17 more authors.
European Journal of Human Genetics | Year: 2014

Intellectual disability (ID) is frequent in the general population, with 1 in 50 individuals directly affected worldwide. The multiple etiologies include X-linked ID (XLID). Among syndromic XLID, few syndromes present severe ID associated with postnatal microcephaly and midline stereotypic hand movements. We report on three male patients with ID, midline stereotypic hand movements, hypotonia, hyperkinesia, strabismus, as well as seizures (2/3), and non-inherited and postnatal onset microcephaly (2/3). Using array CGH and exome sequencing we characterised two truncating mutations in IQSEC2, namely two de novo intragenic duplication mapped to the Xp11.22 region and a nonsense mutation in exon 7. We propose that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C. © 2014 Macmillan Publishers Limited All rights reserved. Source

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