Abstract
Background Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners. To date one autosomal recessive and four autosomal dominant loci have been mapped on human chromosomes. In the present study we have investigated a consanguineous Pakistani family segregating autosomal recessive PAP type A to identify the gene responsible for this phenotype. Methods Whole exome sequencing combined with homozygosity mapping and array comparative genomic hybridisation (aCGH) analysis was used to search for a genetic cause of PAP type A in the present study. Results Exome sequencing identified a missense mutation (c.1420C>T; p.Thr474Ile) in all the affected individuals of the family, in the gene ZNF141, mapped to the telomeric region on chromosome 4p16.3. Conclusion This study revealed involvement of a zinc finger gene ZNF141 in causing autosomal recessive PAP type A, which may open up interesting perspectives into the function of this protein in limb development.