Clinical Case Reports | |
Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)] | |
Habib Bouazzi1  Gaetan Lesca4  Carlos Trujillo2  Mohammad Khalid Alwasiyah3  | |
[1] 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 】
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.Key Clinical Message
【 授权许可】
CC BY-NC
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
【 预 览 】
Files | Size | Format | View |
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RO202107150002899ZK.pdf | 447KB | download |