atp8a2 and akap10 gene mutations in a patient with prader-willi syndrome: a case report and literature review

Introduction: prader-willi syndrome (pws) is an epigenetic disease. cerebellar ataxia, mental retardation, and disequilibrium syndrome type 4 (camrq4) is a genetic disorder caused by atp8a2 gene mutation. akap10 gene is related to autosomal dominant cardiac conduction defectandcardiac susceptibility. here,wereport apwsinfant withatp8a2andakap10 mutations,whopresented multiple dysmorphic features and review correlative literature.case presentation: a3-month-oldboy presented to our unit because of developmental delay after birth. hehada poor response, feeblecry, hypotonia of extremities, empty scrotum, and characteristic facial features. the whole-exome sequencing showed c.187c>g (p.p63a) in exon 2 originated from his father and c.2138t>c (p.i713t) in exon 23 originated from his mother, which were compound heterozygous variants of the atp8a2 gene. a c.43delc heterozygous variant in exon 1 of the akap10 gene was also detected. geneticanalysis revealed normal copy numbers but abnormal methylation in the 15q11-13 region, which implied nondeletion type pws.conclusions: in patients with dysmorphic facial features, hypotonia and developmental delay, pws should be considered in the differential diagnosis. moreover, other complicated hereditary diseases should be considered in patients with pws.