Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A

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....

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-05, Vol.185 (5), p.1602-1605
Main Authors: Majethia, Purvi, Girisha, Katta Mohan
Format: Article
Language:English
Subjects:
Ataxia
Growth rate
Lipoatrophy
Neonates
neuroregression
Phenotypes
POLR3A
progeria
Scalp
Wiedemann–Rautenstrauch syndrome
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62115