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

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who...

Full description

Saved in:
Bibliographic Details
Published in:Human genome variation 2017-08, Vol.4 (1), p.17031-17031, Article 17031
Main Authors: Okada, Asami, Kohmoto, Tomohiro, Naruto, Takuya, Yokota, Ichiro, Kotani, Yumiko, Shimada, Aki, Miyamoto, Yoko, Takahashi, Rizu, Goji, Aya, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Format: Article
Language:English
Subjects:
631/208/1516
692/420/2489/144
692/420/2489/1512
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Mutation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known POLD1 mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2017.31