Cardoso-Dos-Santos Augusto C, Oliveira Silva Thiago, Silveira Faccini Anderson, Woycinck Kowalski Thayne, Bertoli-Avella Aida, Morales Saute Jonas A, Schuler-Faccini Lavinia, de Oliveira Poswar Fabiano
Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Mol Syndromol. 2020 Feb;11(1):24-29. doi: 10.1159/000505843. Epub 2020 Feb 1.
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in . In this study, we identified a Brazilian patient carrying a likely de novo nonsense mutation (c.451C>T; p.Arg151*) which was absent in both parents. All disease-causative variants already associated with XGS have been reviewed and the mutation described here corresponds to the closest one to the N-terminal region. Our findings were discussed based on the suggested genotype-phenotype correlation of the disease.
夏-吉布斯综合征（XGS）是一种罕见的神经疾病，其特征为全面发育迟缓、肌张力减退、智力障碍、癫痫发作和睡眠呼吸暂停。XGS由[具体基因名称]中的单等位基因致病变异所定义。在本研究中，我们鉴定出一名巴西患者，其携带一个可能的新生无义突变（c.451C>T；p.Arg151*），该突变在其父母双方中均不存在。所有已与XGS相关的致病变异均已被回顾，此处描述的突变是最接近N端区域的一个。我们根据该疾病建议的基因型-表型相关性对研究结果进行了讨论。
