Kalsoom et al. (2013) studied a consanguineous Pakistani family in which 3 brothers and a sister had bilateral well-formed duplication of the fifth digit on the hands and the feet. In addition, their fifth fingers were wide and ... Kalsoom et al. (2013) studied a consanguineous Pakistani family in which 3 brothers and a sister had bilateral well-formed duplication of the fifth digit on the hands and the feet. In addition, their fifth fingers were wide and deviated to either the radial or the ulnar side, although the degree of widening and deviation of the fifth fingers varied both within and between affected family members. Radiography in 2 affected brothers demonstrated well-developed sixth digits joined to the bifid fifth metacarpals, as well as radial or ulnar deviation of the fifth fingers, which was unilateral in 1 of the brothers. One brother also had a duplicated distal phalanx sharing a common distal interphalangeal joint and a small central phalanx of the fifth finger. Foot x-ray of 1 brother revealed a duplicated, fork-shaped fifth metatarsal bone with a well-developed sixth digit. Teeth, nails, sweating, and hearing were normal in all 4 affected sibs, and there were no neurologic problems or facial dysmorphism. Kalsoom et al. (2013) stated that heterozygous carriers had normal hands and feet and were phenotypically indistinguishable from genotypically normal individuals.
markers in the vicinity of the ZNF141 gene and identified a 6.53-Mb linkage interval on chromosome 4p16.3-p16.2. A maximum 2-point lod score of 2.63 (theta = 0) was achieved for markers D4S127, D4S179, and D4S2957, with a maximum multipoint ...markers in the vicinity of the ZNF141 gene and identified a 6.53-Mb linkage interval on chromosome 4p16.3-p16.2. A maximum 2-point lod score of 2.63 (theta = 0) was achieved for markers D4S127, D4S179, and D4S2957, with a maximum multipoint lod score of 3.38 obtained at marker D4S412. In a consanguineous Pakistani family with autosomal recessive postaxial polydactyly type A, Kalsoom et al. (2013) performed exome sequencing and identified homozygosity for a missense mutation in the ZNF141 gene (T474I; 194648.0001) that segregated with disease in the family and was not found in 100 ethnically matched controls.