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

• Okada, Asami

• Kohmoto, Tomohiro

• Naruto, Takuya

• Yokota, Ichiro

• Kotani, Yumiko

• Shimada, Aki

• Miyamoto, Yoko

• Takahashi, Rizu

• Goji, Aya

• Masuda, Kiyoshi

• Kagami, Shoji

• Imoto, Issei

書誌事項

タイトル別名

• The first Japanese MDPL case

抄録

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.

収録刊行物

• Human Genome Variation

  Human Genome Variation 4 17031-, 2017-08-03

  Springer Nature

キーワード

• Genetics
• Molecular Biology
• Biochemistry

詳細情報

• CRID: 1050005667197427072
• NII論文ID: 120006955877
• ISSN: 2054345X
• DOI: 10.1038/hgv.2017.31
• Web Site: http://repo.lib.tokushima-u.ac.jp/115129
• Web Site: https://www.nature.com/articles/hgv201731.pdf
• Web Site: https://www.nature.com/articles/hgv201731
• Web Site: http://www.nature.com/articles/hgv201731
• Web Site: https://search.jamas.or.jp/link/ui/2020318738
• 本文言語コード: en
• 資料種別: journal article
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