The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation....

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Autores principales:	Victor Zanetti Drumond, Lucas Sousa Salgado, Camila Sousa Salgado, Vitor Augusto de Lima Oliveira, Eliene Magda de Assis, Michel Campos Ribeiro, Analina Furtado Valadão, Alfredo Orrico
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi - Cambridge University Press 2021
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/d0c6e04bec9d4e938b2841b6156287f1
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spelling	oai:doaj.org-article:d0c6e04bec9d4e938b2841b6156287f12021-12-02T19:24:16ZThe Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review1469-507310.1155/2021/6652957https://doaj.org/article/d0c6e04bec9d4e938b2841b6156287f12021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/6652957https://doaj.org/toc/1469-5073Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.Victor Zanetti DrumondLucas Sousa SalgadoCamila Sousa SalgadoVitor Augusto de Lima OliveiraEliene Magda de AssisMichel Campos RibeiroAnalina Furtado ValadãoAlfredo OrricoHindawi - Cambridge University PressarticleGeneticsQH426-470ENGenetics Research, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Victor Zanetti Drumond Lucas Sousa Salgado Camila Sousa Salgado Vitor Augusto de Lima Oliveira Eliene Magda de Assis Michel Campos Ribeiro Analina Furtado Valadão Alfredo Orrico The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
description	Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.
format	article
author	Victor Zanetti Drumond Lucas Sousa Salgado Camila Sousa Salgado Vitor Augusto de Lima Oliveira Eliene Magda de Assis Michel Campos Ribeiro Analina Furtado Valadão Alfredo Orrico
author_facet	Victor Zanetti Drumond Lucas Sousa Salgado Camila Sousa Salgado Vitor Augusto de Lima Oliveira Eliene Magda de Assis Michel Campos Ribeiro Analina Furtado Valadão Alfredo Orrico
author_sort	Victor Zanetti Drumond
title	The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
title_short	The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
title_full	The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
title_fullStr	The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
title_full_unstemmed	The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
title_sort	prevalence of clinical features in patients with aarskog–scott syndrome and assessment of genotype-phenotype correlation: a systematic review
publisher	Hindawi - Cambridge University Press
publishDate	2021
url	https://doaj.org/article/d0c6e04bec9d4e938b2841b6156287f1
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The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

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