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Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A
Author(s) -
Majethia Purvi,
Girisha Katta Mohan
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62115
Subject(s) - exome sequencing , phenotype , genetics , compound heterozygosity , medicine , allele , ataxia , dermatology , biology , gene , psychiatry
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.