Singh Ankur, Kim Ok-Hwa, Iida Aritoshi, Park Woong-Yang, Ikegawa Shiro, Kapoor Seema
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Department of Radiology, Woorisoa Children's Hospital, Seoul, Republic of Korea.
Eur J Med Genet. 2015 Feb;58(2):105-10. doi: 10.1016/j.ejmg.2014.11.006. Epub 2014 Dec 5.
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.
德斯布瓦氏发育不良（DBQD）是一种罕见的骨骼发育不良，其特征为严重身材矮小、关节松弛、多关节脱位和发育迟缓。DBQD在临床上具有异质性。手部X线片存在不同异常，如第二掌骨远端有额外骨化或手部正常，这导致其被分为1型和2型。此外，还报道了DBQD的第三种类型——金氏型，其特征为掌骨短和指骨细长。然而，DBQD金氏型仅在日本人和韩国人中被报道过，其临床特征仍有待描述。在所有三种类型的DBQD中均报道了钙激活核苷酸酶1（CANT1）基因突变。先前报道的DBQD金氏型患者有一个常见突变c.676G>A（p.Val226Met），该突变在日本人和韩国人中有共同的起源。在此，我们报告了来自2个互不相关家庭的3例印度DBQD金氏型患者。我们在所有患者中均鉴定出纯合形式的CANT1新突变c.467C>T（p.Ser156Phe）。我们的结果表明，DBQD金氏型并非东亚人所特有，并且还报告了来自印度次大陆的一种新突变。
