NAA10基因突变导致的Ogden综合征新生儿1例  

A newborn with Ogden syndrome caused by NAA10 gene mutation

作　　者：施敏 彭蕾 李慧敏 李霞[1] SHI Min;PENG Lei;LI Huimin;LI Xia(Department of Neonatology,Jinan Maternal and Child Health Hospital,Shandong First Medical University,Jinan,Shandong 250001,China)

机构地区：[1]山东第一医科大学附属济南市妇幼保健院新生儿科,山东济南250001

出　　处：《中国优生与遗传杂志》2023年第2期392-394,共3页Chinese Journal of Birth Health & Heredity

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。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.

关 键 词：Ogden综合征 NAA10基因 c.245G>A[P.(Arg82Gln)] 

分 类 号：R722.1[医药卫生—儿科]