(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
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MKRN3 的（表观）遗传缺陷在亚洲中枢性性早熟患者中很少见。
DOI：
10.1038/s41439-019-0039-9
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发表时间：
2019
影响因子：
1.5
通讯作者：
Fukami M
中科院分区：
文献类型：
--
作者：
Suzuki E;Shima H;Kagami M;Soneda S;Tanaka T;Yatsuga S;Nishioka J;Oto Y;Kamiya T;Naiki Y;Ogata T;Fujisawa Y;Nakamura A;Kawashima S;Morikawa S;Horikawa R;Sano S;Fukami M
我们对24例日本或中国患者的中枢性早熟的主要致病基因MKRN3进行了测序，并检测了19例患者的DNA甲基化和拷贝数状态。除了先前报道的一个突变外，我们没有发现(Epi)遗传缺陷。这些结果与来自韩国的报告一起表明，MKRN3缺陷在亚洲人群中很少见。种族差异可能反映了西方国家特有的创始人突变和从头突变的罕见。
We sequencedMKRN3, 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 thatMKRN3defects are rare in Asian populations. The ethnic differences likely reflect Western country-specific founder mutations and the rarity of de novo mutations.