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Genetic overview of postaxial polydactyly: Updated classification.
Ahmad, Zaheer; Liaqat, Romana; Palander, Oliva; Bilal, Muhammad; Zeb, Shah; Ahmad, Farooq; Jawad Khan, Muhammad; Umair, Muhammad.
Afiliación
  • Ahmad Z; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Liaqat R; Institute of Chemical Sciences, Gomal University, Dera Ismail Khan, Pakistan.
  • Palander O; Faculty of Medicine, Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada.
  • Bilal M; Cell Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Zeb S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Ahmad F; Institute for Advanced Study, Shenzhen University, Shenzhen, People's Republic of China.
  • Jawad Khan M; College of Physics and Optoelectronics Engineering, Shenzhen University, Shenzhen, People's Republic of China.
  • Umair M; Department of Biochemistry, Women University Swabi, Swabi, Pakistan.
Clin Genet ; 103(1): 3-15, 2023 01.
Article en En | MEDLINE | ID: mdl-36071556
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polidactilia Límite: Humans / Newborn Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polidactilia Límite: Humans / Newborn Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Dinamarca