Produção Nacional
The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
2021; Cambridge University Press; Volume: 2021; Linguagem: Inglês
10.1155/2021/6652957
ISSN1469-5073
AutoresVictor Zanetti Drumond, Lucas Sousa Salgado, Camila Sousa Salgado, V. Oliveira, Eliene Magda de Assis, Michel Campos Ribeiro, Analina Furtado Valadão, Alfredo Orrico,
Tópico(s)Cancer-related gene regulation
ResumoAarskog–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.
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