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 KIAA0825 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 KIAA0825 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.
Mol Syndromol

中文翻译：

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KIAA0825 中的移码变异导致轴后多指畸形

轴后多指畸形 (PAP) 的特点是手和/或脚上的第 5 指（小指）重复会适得其反，这通常会导致功能性并发症。迄今为止，至少有 11 个基因与引起各种类型的非综合征性多指畸形有关。在本研究中，以常染色体隐性方式对具有分离的非综合征型 PAP 的信德血统的近亲家族进行了临床和遗传评估。使用多态性微卫星标记进行基因分型，在携带KIAA0825基因 (MIM 617266) 的染色体 5q15 上建立了连锁。该基因的序列分析揭示了一种导致过早终止密码子的新型移码变体 [c.143delG, p.(Cys48Serfs*28)]。这只是KIAA0825 中的第 4 个新变体导致 PAP A10 型 (PAPA10) (MIM 618498) 的基因。PAP 致病基因变异的鉴定将支持巴基斯坦人群肢体畸形患者的诊断。
摩尔综合征