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(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Suzuki, Erina; Shima, Hirohito; Kagami, Masayo; Soneda, Shun; Tanaka, Toshiaki; Yatsuga, Shuichi; Nishioka, Junko; Oto, Yuji; Kamiya, Toshiya; Naiki, Yasuhiro; Ogata, Tsutomu; Fujisawa, Yasuko; Nakamura, Akie; Kawashima, Sayaka; Morikawa, Shuntaro; Horikawa, Reiko; Sano, Shinichiro; Fukami, Maki.
Affiliation
  • Suzuki E; 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Shima H; 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kagami M; 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Soneda S; 2Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Tanaka T; Tanaka Growth Clinic, Tokyo, Japan.
  • Yatsuga S; 4Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Nishioka J; 4Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
  • Oto Y; 5Department of Pediatrics, Saitama Medical Center, Dokkyo Medical University, Saitama, Japan.
  • Kamiya T; Department of Pediatrics, JA Mie Kouseiren Matsusaka Central General Hospital, Matsusaka, Japan.
  • Naiki Y; 7Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
  • Ogata T; 8Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Fujisawa Y; 8Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakamura A; 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kawashima S; 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Morikawa S; 9Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
  • Horikawa R; 7Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
  • Sano S; 10Hamamatsu Medical Center, Hamamatsu, Japan.
  • Fukami M; 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Hum Genome Var ; 6: 7, 2019.
Article in En | MEDLINE | ID: mdl-30675365
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Hum Genome Var Year: 2019 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Hum Genome Var Year: 2019 Document type: Article Affiliation country: