Article
A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
BMC medical genetics - 23 Dec 2019
Zaib Tahir, Ji Wei, Saleem Komal, Nie Guangchen, Li Chao, Cao Lin, Xu Baijun, Dong Kexian, Yu Hanfei, Hao Xuguang, Xue Yan, Si Shuhan, Jia Xueyuan, Wu Jie, Zhang Xuelong, Guan Rongwei, Ji Guohua, Bai Jing, Chen Feng, Liu Yong, Sun Wenjing, Fu Songbin
Abstract excerpt
BACKGROUND: Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly caused by mutation in HOXD13 gene. In this study, a five-generation Chinese family affected with SPD1 disease were collected. We tried to identify the pathogenic variations associated with SPD1...
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