该文报道1个累及3代共9人的Nascimento型X连锁智力障碍(Nascimento form of syndromic X-linked intellectual developmental disorder,MRXSN)大家系的临床特点及基因突变类型并进行文献复习。家系中共9人有相似的智力障碍、特殊面容等...该文报道1个累及3代共9人的Nascimento型X连锁智力障碍(Nascimento form of syndromic X-linked intellectual developmental disorder,MRXSN)大家系的临床特点及基因突变类型并进行文献复习。家系中共9人有相似的智力障碍、特殊面容等,其中4人已去世。基因检测提示先证者UBE2A基因存在2~3号外显子缺失,来自母亲。荧光定量聚合酶链反应显示,先证者和表舅UBE2A基因存在2~3号外显子缺失,先证者之母亲、外婆及表姨奶UBE2A基因存在2~3号外显子杂合缺失;先证者之父亲、姐姐、表姨UBE2A基因2~3号外显子拷贝数均正常。文献报道的34例患者临床表型多样,UBE2A基因突变(22/34,65%)和大片段缺失(12/34,35%)为主要突变类型。中重度智力障碍(34/34,100%)、言语障碍(33/34,97%)、特殊面容(32/34,94%)等是MRXSN患者主要的临床表现。该病具有明显的表型异质性,尽早明确诊断有利于优生优育。展开更多
UBE2O is a distinctive ubiquitin-conjugating enzyme characterized by its large size(1292 residues)and dual E2/E3 enzymatic activities,enabling diverse ubiquitylation types.Unlike typical E2 enzymes(150~200 residues),U...UBE2O is a distinctive ubiquitin-conjugating enzyme characterized by its large size(1292 residues)and dual E2/E3 enzymatic activities,enabling diverse ubiquitylation types.Unlike typical E2 enzymes(150~200 residues),UBE2O’s multifunctionality allows it to regulate substrate degradation,subcellular localization,and functional modulation.Emerging studies highlight its critical roles in protein quality control,erythroid differentiation,metabolic regulation,and maintenance of circadian rhythm.Dysregulation of UBE2O is implicated in various diseases,including cancers,neurodegenerative disorders,and metabolic diseases.This review extensively discusses the unique structural features,diverse biological functions,and pathological roles of UBE2O,as well as its therapeutic potential for associated diseases.展开更多
文摘该文报道1个累及3代共9人的Nascimento型X连锁智力障碍(Nascimento form of syndromic X-linked intellectual developmental disorder,MRXSN)大家系的临床特点及基因突变类型并进行文献复习。家系中共9人有相似的智力障碍、特殊面容等,其中4人已去世。基因检测提示先证者UBE2A基因存在2~3号外显子缺失,来自母亲。荧光定量聚合酶链反应显示,先证者和表舅UBE2A基因存在2~3号外显子缺失,先证者之母亲、外婆及表姨奶UBE2A基因存在2~3号外显子杂合缺失;先证者之父亲、姐姐、表姨UBE2A基因2~3号外显子拷贝数均正常。文献报道的34例患者临床表型多样,UBE2A基因突变(22/34,65%)和大片段缺失(12/34,35%)为主要突变类型。中重度智力障碍(34/34,100%)、言语障碍(33/34,97%)、特殊面容(32/34,94%)等是MRXSN患者主要的临床表现。该病具有明显的表型异质性,尽早明确诊断有利于优生优育。
基金Supported by Special Projects in Key Areas for Guangdong Provincial Colleges and Universities (No.2021ZDZX2009)Guangzhou Medical University Discipline Construction Funds (Basic Medicine)(No.JCXKJS2022A05)。
文摘UBE2O is a distinctive ubiquitin-conjugating enzyme characterized by its large size(1292 residues)and dual E2/E3 enzymatic activities,enabling diverse ubiquitylation types.Unlike typical E2 enzymes(150~200 residues),UBE2O’s multifunctionality allows it to regulate substrate degradation,subcellular localization,and functional modulation.Emerging studies highlight its critical roles in protein quality control,erythroid differentiation,metabolic regulation,and maintenance of circadian rhythm.Dysregulation of UBE2O is implicated in various diseases,including cancers,neurodegenerative disorders,and metabolic diseases.This review extensively discusses the unique structural features,diverse biological functions,and pathological roles of UBE2O,as well as its therapeutic potential for associated diseases.
