(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341071/
https://www.ncbi.nlm.nih.gov/pubmed/30675365
http://dx.doi.org/10.1038/s41439-019-0039-9
Descripción
Sumario: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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