Article
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
Journal of human genetics - 1 May 2011
Dai Jin, Kim Ok-Hwa, Cho Tae-Joon, Miyake Noriko, Song Hae-Ryong, Karasugi Tatsuki, Sakazume Satoru, Ikema Masahide, Matsui Yoshito, Nagai Toshiro, Matsumoto Naomichi, Ohashi Hirofumi, Kamatani Naoyuki, Nishimura Gen, Furuichi Tatsuya, Takahashi Atsushi, Ikegawa Shiro
Abstract excerpt
Desbuquois dysplasia (DBQD) is a severe skeletal dysplasia of autosomal recessive inheritance. DBQD is classified into types 1 and 2 based on presence or absence of hand anomalies. In a previous study, we found a CANT1 (for calcium-activated nucleotidase 1) mutation, c.676G>A in five DBQD families. They were all East Asians (Japanese or Korean). The high prevalence of the same mutation among Japanese and Korean...
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