Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.

Introduction: Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting.

Methods: An in-house developed disease-associated gene panel was conducted in two unrelated fetuses with FADS.