Browsing by Author "Paolacci, Stefano T"

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    Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome
    (Springernature, 2020-12) Ergören, Mahmut Çerkez; Manara, Elena; Paolacci, Stefano T; Tuncel, Gülten; Gül, Şeref; Bertelli, Matteo; Temel, Şehime Gülsün; Uludağ Üniversitesi/Tıp Fakültesi/Temel Tıp Bilimleri Bölümü.; AAG-8385-2021; 6507885442
    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 thePOLR3A(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 thePOLR3Agene. 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.