Turner syndrome and genetic polymorphism: a systematic review

Abstract

Objective: To present the main results of the literature on genetic polymorphisms in Turner syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. Data sources: The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. Data synthesis: The polymorphisms investigated in patients with Turner syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner syndrome. The role of single nucleotide polymorphisms in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Conclusions: Genetic polymorphisms appear to be associated with Turner syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner syndrome. Síndrome de Turner; Polimorfismo genético; Síndrome de Turner e polimorfismo genético: uma revisão sistemática Resumo Objetivo: Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico. DOI of original article: http://dx.ARTICLE IN PRESS +Model 2 Marqui ABT Hormônio do crescimento; Aneuploidia Fontes de dados: Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura. Síntese dos dados: Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs) na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica. Conclusões: Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.

Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease

“…This genetic variant was analysed in 109 TS patients and compared with 109 healthy, age‐matched controls. In our study group, PTPN22 was not related with the syndrome ( p = .61, OR 0.33), confirming that this polymorphism has a different effect in different populations and highlighting the importance of genetic background (Liao, Chen, Zhao, & Xie, ; Trovó de Marqui, ). Bearing in mind that polymorphisms act in an additive manner, the ZFAT Ex9b‐SNP10 variant was included in an attempt to explore whether other polymorphic variants can be associated with thyroid autoimmunity risk in TS.…”

“…TS is no exception. However, in 2015, a systematic review of formal studies of polymorphisms associated with the aetiology and clinical manifestations of TS concluded that the evidence is insufficient and more studies are needed to highlight the clinical relevance of this association and the influence of ethnicity (Trovó de Marqui, ). Bianco et al.…”

“…In 2015, a systematic review of the formal studies of polymorphisms associated with the aetiology and clinical manifestations of TS found 17 studies in PubMed suggesting that identifying such polymorphisms could be a useful strategy in identifying high‐risk groups. However, considering the small number of published studies and contradictory findings related to the varying ethnicities present in the analysed samples, studies carried out in different populations are needed to clarify the role of these single‐nucleotide polymorphisms (SNPs) in the aetiology and clinical manifestations of this chromosomal disorder (Trovó de Marqui, ). Therefore, the aim of this study was to determine the allelic frequency of three functional polymorphisms associated with autoimmunity in 109 Mexican TS patients.…”

Case Reporton Turners Syndrome in North Karnataka

“…The genotype-phenotype correlation is not understood [12]. In TS, genetic polymorphisms are associated with clinical features [13]. TS 45X karyotype is most frequent, there is a loss of the paternal X or Y chromosome in meiosis or in early embryogenesis than by loss of the maternal X chromosome [14].…”

Supernumerary teeth in a patient with Turner syndrome: An unusual finding

“…The main general clinical characteristics suggesting the diagnosis of TS include short stature, webbed neck, sexual infantilism, cubitus valgus, gonadal dysgenesis, short metacarpals, shield‐like chest, breast hypertelorism, cardiac and renal malformations, intestinal telangiectasia, and multiple pigmented nevi . Craniofacial stigmata include epicanthic folds, short nose with elevated base and tip, triangular face, micrognathia with small receding chin, low‐set prominent ears, low hairline at the nape of the neck, and compromised craniofacial growth …”