<i>ATP8A2</i> and <i>AKAP10</i> Gene Mutations in a Patient with Prader-Willi Syndrome: A Case Report and Literature Review

Abstract

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 defect and cardiac susceptibility. Here, we report a PWS infant with ATP8A2 and AKAP10 mutations, who presented multiple dysmorphic features and review correlative literature. Case Presentation: A 3-month-old boy presented to our unit because of developmental delay after birth. He had a poor response, feeble cry, 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. Genetic analysis 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.