Alpha-thalassemia X-linked mental retardation syndrome is also known as ATRX syndrome. This condition is characterized by mental retardation, severe developmental delay, unique craniofacial features, skeletal abnormalities, characteristic mouth, facial hypotonia and genital abnormalities; seizures occur in about one third of the cases. These patients often have a form of anemia, called alpha thalassemia, which results from a defect in the production of hemoglobin. The syndrome is caused by mutations in the ATRX gene that is located on the X chromosome. Thus, males who inherit a mutation in the ATRX gene are affected with the disorder. Females who inherit a mutation in the ATRX gene are carriers of the disorder. ATRX syndrome has been recognized fairly recently and, thus, information about it is still evolving. We describe two brothers, the older with profound developmental delay evolving in spasticity, facial dysmorphism, microcephaly, genital abnormalities and alpha thalassaemia. Mutation in ATRX gene was de novo. He presented prolonged generalized cluster seizures with drug-resistant and severe neuropsychological deficits. The younger brother had psychomotor retardation and electroencephalographic anomalies. The severity of the clinical feature of older brother takes a multidisciplinary approach; considering the extreme variability of the phenotypic spectrum is essential to carefully follow the younger brother that the investigation is still ongoing. There are important implications of early diagnosis for genetic counseling. The characterization of an epileptogenic phenotype associated with mutation of ATRX on a larger series of patients could provide more support to the indication for testing, with a great help for early diagnosis.
|Translated title of the contribution||Is ATRX gene mutation a cause of mental retardation and epilepsy? Description of two brothers|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2012|
ASJC Scopus subject areas
- Clinical Neurology