Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis

• Published in: BioMed research international Vol. 2018; no. 2018; pp. 1 - 9
• Main Author: Qattan, Mohammad M. Al
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2018; Hindawi; John Wiley & Sons, Inc; Hindawi Limited
• Subjects: Animal models; Biomedical research; Defects; Developmental biology; Ectopic expression; Fingers & toes; Gene mutations; Genetic aspects; Genotype & phenotype; Hedgehog protein; Limb buds; Mutation; Pathogenesis; Phenotypes; Polydactyly; Regulatory sequences; Reproduction (copying); Review; Stem cells
• ISSN: 2314-6133; 2314-6141
• DOI: 10.1155/2018/1573871

Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis.