Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
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ABSTRACT:
SUBMITTER: Bouazzi H
PROVIDER: S-EPMC4527805 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Publications
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Bouazzi Habib H Lesca Gaetan G Trujillo Carlos C Alwasiyah Mohammad Khalid MK Munnich Arnold A
Clinical case reports 20150526 7
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. ...[more]
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