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

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

doi:10.1038/hgv.2017.31

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

Hum Genome Var. 2017 Aug 3:4:17031. doi: 10.1038/hgv.2017.31. eCollection 2017.

Authors

Asami Okada¹, Tomohiro Kohmoto², Takuya Naruto², Ichiro Yokota^{1

3}, Yumiko Kotani¹, Aki Shimada^{3

4}, Yoko Miyamoto², Rizu Takahashi², Aya Goji¹, Kiyoshi Masuda², Shoji Kagami¹, Issei Imoto²

Affiliations

¹ Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
² Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
³ Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Zentsuji, Japan.
⁴ Department of Otolaryngology, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

Abstract

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.