Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
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.
Hôpital Necker - Enfants Malades INSERM U781, Laboratoire de génétique médicale. Tour Lavoisier - 3ème étage 149 rue de Sèvres - 75743, Paris Cedex 15, France.
Habib
H
Bouazzi
Service de Cytogénétique constitutionnelle, Groupement Hospitalier Est. 59 Boulevard Pinel, 69677, Bron Cedex, France.
Gaetan
G
Lesca
Genetics Unit, Erfan & Bagedo Hospital P.O. Box 6519, Jeddah, 21452, Saudi Arabia.
Carlos
C
Trujillo
Aziziah Maternity and Children Hospital Jeddah, Saudi Arabia.
Mohammad Khalid
MK
Alwasiyah
Hôpital Necker - Enfants Malades, Unité INSERM 781, Laboratoire de génétique moléculaire Tour Lavoisier - 2ème étage, 149 rue de Sèvres - 75743, Paris Cedex 15, France.
Arnold
A
Munnich
Intellectual deficiency; MED12; X-Inactivation; X-exome sequencing; X-linked; mutation