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Article

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.

Endocrine journal - 26 Feb 2018

Sasaki Haruka, Yanagi Kumiko, Ugi Satoshi, Kobayashi Kunihisa, Ohkubo Kumiko, Tajiri Yuji, Maegawa Hiroshi, Kashiwagi Atsunori, Kaname Tadashi

Abstract excerpt

Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a "sporadic/isolated" Japanese woman who was ultimately diagnosed with mandibular hypoplasia, deafness, progeroid features, and progressive lipodystrophy (MDPL)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29199204
DOI: 10.1507/endocrj.EJ17-0287

Genes

POLD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.PMID 29199204Read ↗

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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).Semantic proximity Read ↗

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.Semantic proximity Read ↗

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A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.Semantic proximity Read ↗

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Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.Semantic proximity Read ↗

Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients.Semantic proximity Read ↗

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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.Semantic proximity Read ↗

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