Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. Issue 4 (27th December 2019)

• Record Type: Journal Article
• Authors: Radhakrishnan, Periyasamy; Shukla, Anju; Girisha, Katta M.; Nayak, Shalini S.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 4(2020)
• Page Start: 804
• Page End: 807
• Publication Date: 2019-12-27
• Subjects: congenital myasthenic syndrome 10 -- DOK7 -- fetal akinesia deformation sequence; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61473
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogeneous condition. Pathogenic variants in DOK7 are known to cause myasthenic syndrome, congenital, 10 (MIM#254300) and, rarely (reported in a single family) lethal FADS. Herein, we describe a biallelic variant c.1263dupC in DOK7, known to cause congenital myasthenic syndrome 10, causing lethal FADS in a consanguineous family. The present report illustrates wide phenotypic variability caused by biallelic pathogenic variants in DOK7. We also describe the second family with FADS due to pathogenic variants in DOK7 .