A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia

Jin Dai, Ok Hwa Kim, Tae Joon Cho, Noriko Miyake, Hae Ryong Song, Tatsuki Karasugi, Satoru Sakazume, Masahide Ikema, Yoshito Matsui, Toshiro Nagai, Naomichi Matsumoto, Hirofumi Ohashi, Naoyuki Kamatani, Gen Nishimura, Tatsuya Furuichi, Atsushi Takahashi, Shiro Ikegawa

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


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 suggested that it is a common founder mutation in the two populations. To examine a possible common founder, we examined the region around CANT1 in chromosomes with c.676G>A mutation by genotyping polymorphic markers in the region for the families. We examined their haplotypes using the family data. We identified in all families a common haplotype containing the CANT1 mutation that ranged up to 550 kb. The two unrelated carriers of the mutation in general populations in Korea and Japan could also have the haplotype. We estimated the age of the founder mutation as ∼1420 years (95% CI=880-1940 years). The c.676G>A mutation of CANT1 commonly seen in Japanese and Korean DBQD should be derived from a common founder.

Original languageEnglish
Pages (from-to)398-400
Number of pages3
JournalJournal of Human Genetics
Issue number5
Publication statusPublished - 2011 May


  • calcium-activated nucleotidase 1
  • common founder
  • common haplotype
  • desbuquois dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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