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 statusAccepted/In press - 01-01-2019

Fingerprint

Congenital Myasthenic Syndromes
Type 1 Pena Shokeir syndrome

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

@article{bc5724caadca488a861d834e685edfba,
title = "Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence",
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.",
author = "Periyasamy Radhakrishnan and Anju Shukla and Girisha, {Katta M.} and Nayak, {Shalini S.}",
year = "2019",
month = "1",
day = "1",
doi = "10.1002/ajmg.a.61473",
language = "English",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",

}

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. / Radhakrishnan, Periyasamy; Shukla, Anju; Girisha, Katta M.; Nayak, Shalini S.

In: American Journal of Medical Genetics, Part A, 01.01.2019.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

AU - Radhakrishnan, Periyasamy

AU - Shukla, Anju

AU - Girisha, Katta M.

AU - Nayak, Shalini S.

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85077155649&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85077155649&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.61473

DO - 10.1002/ajmg.a.61473

M3 - Article

AN - SCOPUS:85077155649

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

ER -