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

par Battisti, Gladys;Wintjens, René ;Decottignies, Anabelle;Merhi, Ahmad ;Fervaille, Caroline;Sokal, Etienne M;Karadurmus, Deniz ;Benoit, Valérie;Claessens, Anick;Martinet, Jean-Paul;Martiat, Benoît;Kinzinger, Philippe;Maystadt, Isabelle
Référence European journal of medical genetics, 64, 12, page (104333)
Publication Publié, 2021-09

Article révisé par les pairs

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Résumé :

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.