title: A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
abstract: 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.
authors.affiliation: Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
authors.forename: Jin
authors.initials: J
authors.lastname: Dai
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Hae-Ryong
authors.initials: HR
authors.lastname: Song
authors.forename: Tatsuki
authors.initials: T
authors.lastname: Karasugi
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Masahide
authors.initials: M
authors.lastname: Ikema
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Matsui
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Furuichi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takahashi
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D007564:Japan; D007723:Korea; D009154:Mutation / Q000235:genetics*; D009708:Nucleotidases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C551404:CANT1 protein, human; D009708:Nucleotidases