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

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

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 e...

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Main Author: Mohammad M. Al-Qattan
Format: Article
Language:English
Published: Hindawi Limited 2018-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2018/1573871
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spelling doaj-1e97ddade0844bbdbea97f49281ab7582020-11-24T23:48:00ZengHindawi LimitedBioMed Research International2314-61332314-61412018-01-01201810.1155/2018/15738711573871Zone 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 PathogenesisMohammad M. Al-Qattan0King Saud University, Riyadh, Saudi ArabiaClinicians 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.http://dx.doi.org/10.1155/2018/1573871
collection DOAJ
language English
format Article
sources DOAJ
author Mohammad M. Al-Qattan
spellingShingle Mohammad M. Al-Qattan
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
BioMed Research International
author_facet Mohammad M. Al-Qattan
author_sort Mohammad M. Al-Qattan
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Hindawi Limited
series BioMed Research International
issn 2314-6133
2314-6141
publishDate 2018-01-01
description 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.
url http://dx.doi.org/10.1155/2018/1573871
work_keys_str_mv AT mohammadmalqattan zoneofpolarizingactivityregulatorysequencemutationsduplicationswithpreaxialpolydactylyandlongitudinalpreaxialraydeficiencyinthephenotypeareviewofhumancasesanimalmodelsandinsightsregardingthepathogenesis
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