Clinical presentation and genetic correlations of two Bulgarian patients with mutations affecting the SPATA 5 gene

Epilepsy, hearing loss, mental retardation syndrome (EHLMRS, OMIM 616577) is a rare disorder due to mutations in the SPATA5 gene on chromosome 4q28 with an AR inheritance. EHLMRS is characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency and thrombocytopenia.The authors report two clinical cases with EHLMRS and a new likely pathogenic disease causing missense variant c.1831C>T of the SPATA5 gene.  Read the whole article here.