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 - 2020/4/1
Y1 - 2020/4/1
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.
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U2 - 10.1002/ajmg.a.61473
DO - 10.1002/ajmg.a.61473
M3 - Article
AN - SCOPUS:85077155649
SN - 1552-4825
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
ER -