Genetic overview of postaxial polydactyly: Updated classification. Issue 1 (2nd October 2022)

• Record Type: Journal Article
• Authors: Ahmad, Zaheer; Liaqat, Romana; Palander, Oliva; Bilal, Muhammad; Zeb, Shah; Ahmad, Farooq; Jawad Khan, Muhammad; Umair, Muhammad
• Is Part Of: Clinical genetics. Volume 103:Issue 1(2023)
• Page Start: 3
• Page End: 15
• Publication Date: 2022-10-02
• Subjects: classification -- limbs malformation -- non‐syndromic -- PAPA -- polydactyly; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14224
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with various morphologic phenotypes. Apart from physical and functional impairments, the presence of polydactyly is an indication of an underlying syndrome in the newborn. Usually, it follows as an autosomal dominant/recessive inheritance pattern with defects in the limb development's anteroposterior patterning. Although mutations in several genes have been associated with polydactyly; however, the exact underlying cause, pathways, and disease mechanisms are still unexplored, thus making it of multi‐factorial origin. Polydactyly is divided into three subtypes; radial, ulnar, and central polydactyly. So far, 11 loci (PAPA1‐PAPA11) and seven human genes have been reported to cause non‐syndromic postaxial polydactyly in humans, including the ZNF141, GLI3, IQCE, GLI1, FAM92A1, KIAA0825, and DACH1 . In this review, we discuss emerging evidences of clinical and molecular characterization of polydactyly types in term of the involvement of newly associated genes and loci for non‐syndromic postaxial polydactyly, and how these might impact our understanding of the genetic mechanisms and molecular etiology involved in the cause of polydactyly. Abstract : Polydactyly is heterogenous common condition. It is classified into radial polydactyly (PPD), ulnar polydactyly (PAP), and central complex polydactyly. Further PAP is sub‐divided into type A and type B. Depending upon the identification of gene and loci, PAPA is further divided into 11 types.