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...

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Published inHuman genome variation Vol. 4; no. 1; p. 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 Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 03.08.2017
Springer Nature B.V
Nature Publishing Group
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
Online AccessGet full text
ISSN2054-345X
2054-345X
DOI10.1038/hgv.2017.31

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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.
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These authors contributed equally to this work.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2017.31