title: A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
abstract: Desbuquois dysplasia (DBQD) is a rare skeletal dysplasia characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay. DBQD is clinically heterogeneous. Distinct radiographic hand abnormalities such as the presence of extra-ossification distal to the second metacarpal or normal hand has led to its classification into types 1 and 2. Furthermore, the third type of DBQD, Kim type has been reported which is characterized by short metacarpals and elongated phalanges. However, DBQD Kim type has been exclusively reported in Japanese and Korean and its clinical characteristics remain to be delineated. Mutations in the calcium-activated nucleotidase 1 (CANT1) gene have been reported in all three types of DBQD. Previously reported patients with DBQD Kim type had a common mutation c.676G>A (p.Val226Met), which had a common founder between Japanese and Korean. Here, we report 3 Indian patients with DBQD, Kim type from 2 families which were unrelated to each other. We identified a novel mutation of CANT1, c.467C>T (p.Ser156Phe), in all the patients in the homozygous form. Our results show that DBQD Kim type is not exclusive to East Asians and also report a novel mutation from the Indian subcontinent.
authors.affiliation: Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Seoul, Republic of Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Aritoshi
authors.initials: A
authors.lastname: Iida
authors.affiliation: Translational Genomics Laboratory, Samsung Genome Institute, Samsung Medical Centre, Republic of Korea.
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.affiliation: Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India. Electronic address: drseemakapoor@gmail.com.
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
mesh_terms: D000293:Adolescent; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D007593:Joint Instability / Q000235:genetics*; D008297:Male; D009154:Mutation; D009708:Nucleotidases / Q000235:genetics*; D009999:Ossification, Heterotopic / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C551404:CANT1 protein, human; D009708:Nucleotidases
keywords: CANT1; Desbuquois dysplasia; Kim type; Novel mutation