Bilal Muhammad, Ahmad Wasim
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Mol Syndromol. 2021 Mar;12(1):20-24. doi: 10.1159/000512062. Epub 2020 Dec 3.
Postaxial polydactyly (PAP) is characterized by counterproductive 5th digit (pinky finger) duplication on hands and/or feet which often leads to functional complications. To date, at least 11 genes involved in causing various types of nonsyndromic polydactylies have been reported. In the present study, a consanguineous family of Sindhi origin with a segregating nonsyndromic form of PAP in an autosomal recessive manner was clinically and genetically evaluated. Genotyping, using polymorphic microsatellite markers, established linkage in the family on chromosome 5q15 harboring the gene (MIM 617266). Sequence analysis of the gene revealed a novel frameshift variant leading to a premature stop codon [c.143delG, p.(Cys48Serfs*28)]. This is only the 4th novel variant in the gene that leads to PAP type A10 (PAPA10) (MIM 618498). Identification of variants in the PAP causative gene will support the diagnosis of patients with limb malformations in the Pakistani population.
轴后多指（PAP）的特征是手和/或脚上出现多余的第五指（小指），这通常会导致功能并发症。迄今为止，已报道至少11个基因参与导致各种类型的非综合征性多指。在本研究中，对一个来自信德族的近亲家庭进行了临床和基因评估，该家庭中存在常染色体隐性遗传的非综合征性PAP形式。使用多态性微卫星标记进行基因分型，在5号染色体q15上发现了与该基因（MIM 617266）连锁的家系。对该基因的序列分析揭示了一个新的移码变异，导致提前终止密码子[c.143delG，p.(Cys48Serfs*28)]。这是该基因中导致A10型多指（PAPA10）（MIM 618498）的第4个新变异。鉴定PAP致病基因中的变异将有助于诊断巴基斯坦人群中肢体畸形的患者。
