Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

Periyasamy Radhakrishnan, Anju Shukla, Katta M. Girisha, Shalini S. Nayak

Research output: Contribution to journalArticle

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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
DOIs
Publication statusPublished - 01-04-2020

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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