TY - JOUR
T1 - Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A
AU - Majethia, Purvi
AU - Girisha, Katta Mohan
N1 - Funding Information:
We would like to thank the family members of the patient for their participation in this study. We also thank the National Institutes of Health, USA for funding the project titled “Genetic Diagnosis of Neurodevelopmental Disorders in India” (1R01HD093570‐01A1).
Publisher Copyright:
© 2021 Wiley Periodicals LLC
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/5
Y1 - 2021/5
N2 - Wiedemann–Rautenstrauch syndrome (WRS; MIM# 264090) is a rare neonatal progeroid disorder resulting from biallelic pathogenic variants in the POLR3A. It is an autosomal recessive condition characterized by growth retardation, lipoatrophy, a distinctive face, sparse scalp hair, and dental anomalies. Till date, 19 families are reported with WRS due to variants in POLR3A. Here, we describe an 18 months old male child with biallelic c.2005C>T p.(Arg669Ter) and c.1771-7C>G variant in heterozygous state identified by exome sequencing in POLR3A leading to WRS phenotype. The variant c.1771-7C>G was earlier found to be associated with hereditary spastic ataxia. We emphasize on the phenotype in an Indian patient with WRS.
AB - Wiedemann–Rautenstrauch syndrome (WRS; MIM# 264090) is a rare neonatal progeroid disorder resulting from biallelic pathogenic variants in the POLR3A. It is an autosomal recessive condition characterized by growth retardation, lipoatrophy, a distinctive face, sparse scalp hair, and dental anomalies. Till date, 19 families are reported with WRS due to variants in POLR3A. Here, we describe an 18 months old male child with biallelic c.2005C>T p.(Arg669Ter) and c.1771-7C>G variant in heterozygous state identified by exome sequencing in POLR3A leading to WRS phenotype. The variant c.1771-7C>G was earlier found to be associated with hereditary spastic ataxia. We emphasize on the phenotype in an Indian patient with WRS.
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U2 - 10.1002/ajmg.a.62115
DO - 10.1002/ajmg.a.62115
M3 - Article
AN - SCOPUS:85100797737
SN - 1552-4825
VL - 185
SP - 1602
EP - 1605
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -