Postaxial polydactyly

Definition:

Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on the ulnar/fibular side of hands/feet. A small projection of tissue or scar mark just below the proximal interphalangeal crease can also be the only clinical finding. PAP is clinically classified into type A (PAPA) with fully developed extra digit and type B (PAPB) with incompletely developed digit. PAPA is a genetically heterogeneous disorder and exhibits either autosomal dominant or recessive manner of inheritance. Given that both isolated PAPA1 and PAPB are caused by the mutations in the GLI3 gene, PAPB may be considered as a variant of PAPA1 in genetics.

References:

[1]. Adrian Palencia-Campos, et al. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. Hum Mol Genet. 2017 Dec 1;26(23):4556-4571. [Content Brief]

[2]. Dominic Furniss, et al. Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. Am J Med Genet A. 2007 Dec 15;143A(24):3150-60. [Content Brief]

[3]. Hao Deng, et al. Advances in the molecular genetics of non-syndromic polydactyly. Expert Rev Mol Med. 2015 Oct 30;17:e18. [Content Brief]

[4]. Irfan Ullah, et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun;138(6):593-600. [Content Brief]

[5]. Isabelle Schrauwen, et al. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb;34(2):375-386. [Content Brief]

[6]. Muhammad Umair, et al. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Eur J Hum Genet. 2017 Aug;25(8):960-965. [Content Brief]

[7]. Prashant Kumar Verma, et al. Review of literature: genes related to postaxial polydactyly. Front Pediatr. 2015 Feb 11;3:8. [Content Brief]

[8]. Umm-e- Kalsoom, et al. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. J Med Genet. 2013 Jan;50(1):47-53. [Content Brief]

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