HGNC Approved Gene Symbol: ZNF141
Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:337,814-384,868 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 4p16.3 | ?Polydactyly, postaxial, type A6 | 615226 | Autosomal recessive | 3 |
By virtue of their role as transcriptional regulators, their abundance in the genome, and their known association with specific developmental disorders, zinc finger encoding genes are good candidates for being implicated in the multiple developmental defects associated with chromosomal aneusomy. Tommerup et al. (1993) isolated a zinc finger-encoding cDNA, ZNF141, of the C2-H2/KRAB subfamily. ZNF141 was expressed ubiquitously at low levels in all tissues analyzed.
By PCR-based analysis of a somatic cell hybrid panel followed by fluorescence in situ hybridization, Tommerup et al. (1993) mapped the ZNF141 gene to chromosome 4p16.3, a region that is deleted in the Wolf-Hirschhorn syndrome (WHS; 194190). They found that ZNF141 maps to the distal end of a 2.2-Mb smallest region of deletion overlap, 300 kb from the 4p telomere, on a cosmid defining the anonymous locus D4S90. By FISH, bright signals were located at 19p12 in addition to 4p16.3; evidence from interphase FISH and FISH to elongated meiotic chromosomes suggested that the signal on 19p12 was due to the presence of a cluster of at least 3 cross-hybridizing loci. FISH studies of a reciprocal t(4;8)-translocation associated with familial occurrence of the Wolf-Hirschhorn syndrome showed that ZNF141 was translocated to the derivative chromosome 8.
In a consanguineous Pakistani family with autosomal recessive postaxial polydactyly type A (PAPA6; 615226), 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.
In affected sibs from a consanguineous Pakistani family with autosomal recessive postaxial polydactyly type A mapping to chromosome 4p16 (PAPA6; 615226), Kalsoom et al. (2013) identified homozygosity for a c.1420C-T transition in exon 4 of the ZNF141 gene, resulting in a thr474-to-ile (T474I) substitution at a primate-conserved residue. The mutation segregated with disease in the family and was not found in 100 ethnically matched controls. (The mutation was given as c.1420C-T in some places of this article and as c.1421C-T in other places.)
Kalsoom, U., Klopocki, E., Wasif, N., Tariq, M., Khan, S., Hecht, J., Krawitz, P., Mundlos, S., Ahmad, W. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. J. Med. Genet. 50: 47-53, 2013. [PubMed: 23160277] [Full Text: https://doi.org/10.1136/jmedgenet-2012-101219]
Tommerup, N., Aagaard, L., Lund, C. L., Boel, E., Baxendale, S., Bates, G. P., Lehrach, H., Vissing, H. A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. Hum. Molec. Genet. 2: 1571-1575, 1993. [PubMed: 8268908] [Full Text: https://doi.org/10.1093/hmg/2.10.1571]