Neonatal progeroid syndrome or Wiedemann–Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in the POLR3A (RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in the POLR3A gene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations.

新生儿早衰综合征或 Wiedemann-Rautenstrauch 综合征 (WRS; MIM 264090) 是一种罕见的遗传性疾病，其临床症状包括过早衰老、脂肪代谢障碍和可变的精神障碍。直到最近，该疾病的遗传背景还不清楚。然而，最近的研究表明，WRS 患者在POLR3A（RNA 聚合酶 III 亚基 3A；MIM 614258）基因中具有复合杂合子变异，这可能是导致疾病表型的原因。在这项研究中，我们报告了POLR3A中具有复合杂合子变异的 WRS 患者基因。我们患者中报告的变异之一，c.3568C>T, p.(Gln1190Ter)，是一种以前未报道过的新变异。另一个变体，c.3337-11T>C，以前在 WRS 患者中显示过，具有其他变体。