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The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via
Asami Okada1, Tomohiro Kohmoto2, Takuya Naruto2
1Department of Paediatrics, 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.
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