Dataset Information

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

ABSTRACT: 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.

SUBMITTER: Tran Mau-Them F

PROVIDER: S-EPMC3895633 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Tran Mau-Them Frederic F Willems Marjolaine M Albrecht Beate B Sanchez Elodie E Puechberty Jacques J Endele Sabine S Schneider Anouck A Ruiz Pallares Nathalie N Missirian Chantal C Rivier Francois F Girard Manon M Holder Muriel M Manouvrier Sylvie S Touitou Isabelle I Lefort Genevieve G Sarda Pierre P Moncla Anne A Drunat Severine S Wieczorek Dagmar D Genevieve David D

European journal of human genetics : EJHG 20130515 2

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 ...[more]

PMID: 23674175

Dataset Information

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Publications

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

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