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

Erina Suzuki, Hirohito Shima, Masayo Kagami, Shun Soneda, Toshiaki Tanaka, Shuichi Yatsuga, Junko Nishioka, Yuji Oto, Toshiya Kamiya, Yasuhiro Naiki, Tsutomu Ogata, Yasuko Fujisawa, Akie Nakamura, Sayaka Kawashima, Shuntaro Morikawa, Reiko Horikawa, Shinichiro Sano, Maki Fukami
Human Genome Variation 2019, 6: 7
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.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"