Premium
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman
Author(s) -
Yu Pui Tak,
Luk Homing,
Mok Myth T,
Lo FM Ivan
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62035
Subject(s) - lipodystrophy , progeria , hypoplasia , hearing loss , medicine , premature aging , sensorineural hearing loss , pediatrics , dermatology , audiology , genetics , biology , physiology , human immunodeficiency virus (hiv) , immunology , antiretroviral therapy , viral load , gene
Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL, MIM# 615381) is an extremely rare and recently recognized early adult onset of progeroid syndrome, with features of generalized lipodystrophy, dysmorphic features, telangiectasia, early onset hearing loss, insulin resistance, and dyslipidemia. Here, we present a 31‐year‐old Chinese woman with MDPL, harboring the recurrent pathogenic variant p.(Ser605del) in POLD1 , illustrating the evolving manifestations of this premature aging disorder from infancy to adulthood.