Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

Clinical Case Reports

Habib Bouazzi¹  Gaetan Lesca⁴  Carlos Trujillo²  Mohammad Khalid Alwasiyah³ 

[1] ORCID:orcid.org/0000-0003-2174-1222;Genetics Unit, Erfan & Bagedo Hospital, Jeddah, Saudi Arabia;Aziziah Maternity and Children Hospital, Jeddah, Saudi Arabia;Service de Cytogénétique constitutionnelle, Groupement Hospitalier Est., Bron Cedex, France

关键词: Intellectual deficiency;    MED12;    mutation;    X‐exome sequencing;    X‐Inactivation;    X‐linked;   

DOI  :  10.1002/ccr3.301

来源: Wiley

【 摘 要 】

Key Clinical Message

X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype–phenotype correlations.

【 授权许可】

CC BY-NC   
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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