(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.,Human Genome Variation

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(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Human Genome Variation Pub Date : 2019-01-21 , DOI: 10.1038/s41439-019-0039-9
Erina Suzuki ₁ , Hirohito Shima ₁ , Masayo Kagami ₁ , Shun Soneda ₂ , Toshiaki Tanaka ₃ , Shuichi Yatsuga ₄ , Junko Nishioka ₄ , Yuji Oto ₅ , Toshiya Kamiya ₆ , Yasuhiro Naiki ₇ , Tsutomu Ogata ₈ , Yasuko Fujisawa ₈ , Akie Nakamura ₁ , Sayaka Kawashima ₁ , Shuntaro Morikawa ₉ , Reiko Horikawa ₇ , Shinichiro Sano ₁₀ , Maki Fukami ₁

Affiliation

1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
2Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
Tanaka Growth Clinic, Tokyo, Japan.
4Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
5Department of Pediatrics, Saitama Medical Center, Dokkyo Medical University, Saitama, Japan.
Department of Pediatrics, JA Mie Kouseiren Matsusaka Central General Hospital, Matsusaka, Japan.
7Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
8Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
9Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
10Hamamatsu Medical Center, Hamamatsu, Japan.

We sequenced MKRN3, the major causative gene of central precocious puberty in Western countries, in 24 Japanese or Chinese patients and examined the DNA methylation and copy-number statuses of this gene in 19 patients. We identified no (epi)genetic defects except for one previously reported mutation. These results, together with reports from Korea, indicate that MKRN3 defects are rare in Asian populations. The ethnic differences likely reflect Western country-specific founder mutations and the rarity of de novo mutations.

更新日期：2019-11-18

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