ID | 115129 |
Title Alternative | The first Japanese MDPL case
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Author |
Okada, Asami
Tokushima University
Kohmoto, Tomohiro
Tokushima University
Yokota, Ichiro
Tokushima University|Shikoku Medical Center for Children and Adults
Kotani, Yumiko
Tokushima University
Tokushima University Educator and Researcher Directory
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Shimada, Aki
Shikoku Medical Center for Children and Adults|Tokushima University
Miyamoto, Yoko
Tokushima University
Takahashi, Rizu
Tokushima University
Goji, Aya
Tokushima University
Kagami, Shoji
Tokushima University
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Content Type |
Journal Article
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Description | 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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Journal Title |
Human Genome Variation
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ISSN | 2054345X
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Publisher | Springer Nature
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Volume | 4
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Start Page | 17031
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Published Date | 2017-08-03
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Rights | This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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language |
eng
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Publisher
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departments |
Medical Sciences
University Hospital
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