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Article

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

European journal of medical genetics - 1 Dec 2021

Gladys Battisti, René Wintjens, Anabelle Decottignies, Ahmad Merhi, Caroline Fervaille, Etienne Sokal, Deniz Karadurmus, Valerie Benoit, Anick Claessens, Jean-Paul Martinet, Benoît Martiat, Philippe Kinzinger, Isabelle Maystadt

Abstract excerpt

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...

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PMID: 34517090
DOI: 10.1016/j.ejmg.2021.104333

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