Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED 12 missense mutation [c.5922G>T (p.Glu1974His)]

Abstract

X‐linked intellectual deficiency ( XLID ) is a large group of genetic disorders. MED 12 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.