A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly.
作者： Muhammad Bilal , Wasim Ahmad
DOI: 10.1159/000512062
关键词:
摘要: 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 Sindhi origin with segregating form PAP an autosomal recessive manner was clinically and genetically evaluated. Genotyping, using polymorphic microsatellite markers, established linkage chromosome 5q15 harboring KIAA0825 gene (MIM 617266). Sequence analysis revealed novel frameshift variant leading premature stop codon [c.143delG, p.(Cys48Serfs*28)]. This only 4th that type A10 (PAPA10) 618498). Identification variants causative will support diagnosis patients limb malformations Pakistani population.
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