Browsing by Author "Bertelli, Matteo"

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    Psychomotor delay in a child with fgfr3 g380r pathogenic mutation causing achondroplasia
    (Thieme Medical Publication, 2021-05-21) Ergoren, Mahmut C.; Manara, Elena; Paolacci, Stefano; Tulay, Pinar; Bertelli, Matteo; Mocan, Gamze; Eren, Erdal; EREN, ERDAL; Sag, Sebnem O.; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Sehime Gulsun; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; 0000-0001-9593-9325; 0000-0002-1684-1053; 0000-0002-1176-3359; 0000-0002-9552-221X; 0000-0002-9802-0880; AAZ-6885-2021; AAY-1413-2020; GQP-2509-2022; JPK-3909-2023; D-8491-2018
    Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 ( FGFR3 ) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G>A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.
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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.