Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
Clin Genet. 2019 Aug;96(2):134-139. doi: 10.1111/cge.13547. Epub 2019 Apr 22.
Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.
桡侧多指畸形（PPD）的特征是手部和/或脚部发育良好的非功能性第 1 指（拇指）重复。它主要以常染色体显性方式遗传。在本研究中，两个具有巴基斯坦血统的家系表现出单侧 PPD 型 A，已在临床和遗传水平上进行了特征描述。全外显子组测序（WES）显示，两个家系中受影响个体的 9q34.2 染色体上的 STKLD1 存在无义突变（c.84C > A，p.Tyr28*）。我们的研究结果首次直接表明 STKLD1 参与了指（趾）的发育，并强调了筛查表现出非综合征性隐性 PPD 的个体时包含该基因的重要性。
