The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection-Reference-Cited by-同舟云学术

The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

Published:2017-08-03 Issue:1 Volume:4 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Okada Asami,Kohmoto Tomohiro,Naruto Takuya,Yokota Ichiro,Kotani Yumiko,Shimada Aki^ORCID,Miyamoto Yoko,Takahashi Rizu,Goji Aya,Masuda Kiyoshi,Kagami Shoji,Imoto Issei

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201731.pdf

Reference13 articles.

1. Shastry S, Simha V, Godbole K, Sbraccia P, Melancon S, Yajnik CS et al. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab 2010; 95: E192–E197.

2. Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet 2013; 45: 947–950.

3. Nicolas E, Golemis EA, Arora S . POLD1: central mediator of DNA replication and repair, and implication in cancer and other pathologies. Gene 2016; 590: 128–141.

4. Pelosini C, Martinelli S, Ceccarini G, Magno S, Barone I, Basolo A et al. 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. Metabolism 2014; 63: 1385–1389.

5. Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I et al. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. Metabolism 2015; 64: 1530–1540.

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review;Frontiers in Endocrinology;2024-03-13

2. From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging;Mechanisms of Ageing and Development;2023-04

3. A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient;BMC Medical Genomics;2022-10-21

4. Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1;European Journal of Human Genetics;2022-05-20

5. DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies;Genetics and Molecular Biology;2022