Журнал фармакогеномики и фармакопротеомики

Абстрактный

Prevalence of clinical features of Aarskog-Scott Syndrome

Lucas Sousa Salgado

Aarkskog-Scott syndrome is a genetically and rare condition originate by a mutation in FGD1 gene. In current literature a several numbers of clinical features classification were disponible. A standardization of this feature promotes a better orientation to clinical participants in diverse fields such as medicine and dentistry. To assess the prevalence of this clinical signs described in literature, a systematic review was carried out. 182 studies were screened and after a criterial appraisal, 22 studies were considered for qualitative analysis. The main inclusion criteria are studies that show a genetical test results of presented cases and complete phenotypical description. The results shows that craniofacial and orthopaedic corresponds to the highest scores of prevalence. 52 different pathogenic variants were described among the 58 cases, in which 33 patients presented with a point pathogenic variant (missense or nonsense mutations), representing about 56% of the total. In addition, 14 small deletions, four small insertions, three gross deletions, three splicing, and one duplication were described. Craniofacial manifestations were the most frequently described in the literature, representing 38.8%, orthopaedic changes represented 18.1%, ophthalmological and neurological manifestations together comprised 25.8%, genitourinary system corresponded to 8.6% The aim of this study is discussing and show the novel clinical features classification and promotes an evidence based clinical genetics pratice.