Variants in KIAA0825 Underlie Autosomal Recessive Postaxial Polydactyly

摘要: Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of can serve as tool elucidate genetic signaling pathways regulate development, specifically, the anterior-posterior specification limb. To date, only five genes have been identified for nonsyndromic PAP: FAM92A, GLI1, GLI3, IQCE ZNF141. In this study, two Pakistani multiplex consanguineous families with autosomal recessive PAP were clinically molecularly evaluated. From both pedigrees, DNA sample from an affected member underwent exome sequencing. each family, we segregating frameshift (c.591dupA [p.(Q198Tfs*21)]) nonsense variant (c.2173A > T [p.(K725*)]) in KIAA0825 (also known C5orf36). Although encodes protein unknown function, it has demonstrated its murine ortholog expressed during development. Our data contribute establishment catalog important patterning, which aid diagnosis obtaining better understanding biology polydactyly.