【摘要】 Ogden综合征是一种罕见的X染色体连锁隐性遗传疾病，由位于X染色体（Xq28）的NAA10基因的致病变异引起，其临床表现和症状严重程度存在显著异质性，但在大多数患者中均存在智力障碍、生长发育迟缓、心脏异常表现。本文报道了1A例新的NAA10基因c.245G>A(P.R82Q)错义变异引起的Ogden综合征，目的是扩大与Ogden综合征相关的临床表型，为临床提供参考。更多还原

【Abstract】 Ogden syndrome is a rare X chromosome linked recessive genetic disorder caused by pathogenic variation of NAA10 gene located on X chromosome(Xq28). There is significant heterogeneity in clinical manifestations and severity of symptoms. Intellectual disability, growth retardation and cardiac abnormalities were found in almost patients. This research reported a case of Ogden syndrome caused by a new missense mutation of c.245G>A(P.R82Q) in NAA10 gene. The aim of this study is to expand the clinical phenotype associated with Ogden syndrome and provide clinical reference for clinical diagnosis and treatment.更多还原