ABSTRACT
We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.
Subject(s)
Gene Duplication , Homeodomain Proteins/genetics , Mental Retardation, X-Linked/genetics , Phenotype , Transcription Factors/genetics , Adolescent , Adult , Child , Child, Preschool , Genetic Testing/methods , Genetic Testing/statistics & numerical data , Genotype , Humans , MaleABSTRACT
Two cases of the Meckel-Gruber syndrome were described at two subsequent pregnancies. Suspicion of this syndrome was established by ultrasonography and confirmed by histopathological findings. Both of the pregnancies were terminated by premature induced delivery.