Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
2019
Postaxial polydactyly(PAP) is a common
limbmalformation that often leads to cosmetic and functional complications. Molecular evaluation of
polydactylycan serve as a tool to elucidate genetic and signaling pathways that regulate
limb development, specifically, the anterior-posterior specification of the
limb. To date, only five genes have been identified for nonsyndromic PAP: FAM92A,
GLI1,
GLI3, IQCE and ZNF141. In this study, two Pakistani multiplex
consanguineousfamilies with autosomal recessive nonsyndromic PAP were clinically and molecularly evaluated. From both pedigrees, a DNA sample from an affected member underwent
exome sequencing. In each family, we identified a segregating frameshift (c.591dupA [p.(Q198Tfs*21)]) and nonsense variant (c.2173A > T [p.(K725*)]) in KIAA0825 (also known as C5orf36). Although KIAA0825 encodes a protein of unknown function, it has been demonstrated that its murine ortholog is expressed during
limb development. Our data contribute to the establishment of a catalog of genes important in
limbpatterning, which can aid in diagnosis and obtaining a better understanding of the biology of
polydactyly.
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