Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.

Autor: Gladys B; Centre for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium., René W; Laboratory of Microbiology, Bioorganic and Macromolecular Chemistry, Université Libre de Bruxelles, Brussels, Belgium., Anabelle D; Telomeres Research Group, Genetic & Epigenetic Alterations of Genomes, de Duve Institute, Université catholique de Louvain, Brussels, Belgium., Ahmad M; IPG BioBank and Laboratory of Translational Oncology, Institut de Pathologie et de Génétique/Grand Hôpital de Charleroi, Gosselies, Belgium., Caroline F; Department of Anatomopathology, Cliniques de Mont-Godinne, CHU-UCL-Namur, Godinne, Belgium., Etienne S; UCLouvain, Cliniques Universitaires St Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, 10 Av Hippocrate, Bruxelles, Belgium., Deniz K; Centre for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium., Valerie B; Centre for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium., Anick C; Department of Endocrinology, Vivalia, Cliniques Sud Luxembourg, Arlon, Belgium., Jean-Paul M; Department of Hepato-Gastro-Enterology, Cliniques de Mont-Godinne, CHU-UCL-Namur, Godinne, Belgium., Benoît M; Department of Oto-Rhino-Laryngology, Vivalia, Cliniques Sud Luxembourg, Arlon, Belgium., Philippe K; Department of Orthopedic Surgery, Vivalia, Cliniques Sud Luxembourg, Arlon, Belgium., Isabelle M; Centre for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium; Faculty of Medicine, Unamur, Namur, Belgium. Electronic address: isabelle.maystadt@ipg.be.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2021 Dec; Vol. 64 (12), pp. 104333. Date of Electronic Publication: 2021 Sep 10.
DOI: 10.1016/j.ejmg.2021.104333
Abstrakt: Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients. We report a novel de novo c.3214A>C p.(Thr1072Pro) variant in POLD1 in a 28-year-old male with MDPL syndrome. We provide a clinical description, molecular/immunohistological results, and literature review.
(Copyright © 2021 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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