Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

Wiedemann-Rautenstrauch syndrome is an extremely rare autosomal recessive progeroid disorder closely linked to mutations in POLR3A. Here, we report a case of a 4-year-old female patient carrying a novel compound-heterozygous variant in POLR3A. In addition to the classic Wiedemann-Rautenstrauch syndrome features-progressive diffuse alopecia, growth retardation, and abnormal white matter development-the patient presented with severe anemia and skin laxity, phenotypes not previously described in Wiedemann-Rautenstrauch syndrome. RT-qPCR analysis of skin tissue demonstrated a significant downregulation of POLR3A mRNA expression (p < 0.01). To our knowledge, this is the first report implicating an intronic POLR3A variant in Wiedemann-Rautenstrauch syndrome in the Chinese population, expanding both the mutational and phenotypic spectra of the disorder and underscoring its clinical heterogeneity.