COG6基因新突变致新生儿期起病的先天性糖基化障碍1例并文献复习
发布时间：2018-10-22 15:35
【摘要】：目的诊断1例COG6基因复合杂合突变所致的先天性糖基化障碍(CDG),为CDG患儿的的早期诊断、制定干预措施和结局预测提供依据。方法总结1例携带有COG6复合杂合突变的CDG患儿的临床表型、家系sanger验证信息、影像学表现、实验室检查和随访信息,对COG6及其他Golgi复合体(COG)基因突变所致CDG的疾病表型行文献复习。结果患儿因早产、生后反复气促吐沫1月余就诊,主要表现为不明原因反复高热伴肝酶异常,皮肤少汗,异常面容,并存在心、肺、肾、凝血和神经系统异常。行核心家系全外显子组检测发现COG6基因复合杂合突变c.511CT(p.R171X)和c.540GA(p.E180E),c.511CT来源于母亲,是人类基因突变数据库(HGMD)已报道的CDGⅡ型的致病突变;c.540GA来源于父亲,为新发突变。汇总专业版HGMD已报道的COG6-CDG患儿9例加本文1例共10例表型(CDGⅡ型),异常面容,可表现为肝、皮肤、心脏、肾脏、骨骼、关节、凝血、免疫、神经系、听力和视觉异常或其他畸形等,多数患儿生长发育迟缓,预后不良,5例病死,存活者均进展为严重肝功能障碍伴反复感染。比COG-CDG其他亚型,临床表现更丰富、病情偏重且预后差。结论新生儿期表现为不明原因高热伴肝酶异常,皮肤少汗,肌张力异常,或存在心、肾、免疫和凝血等多器官和系统功能异常的患儿,应高度怀疑COG6-CDG,此类患儿多数生长发育迟缓,预后不良,新生儿期通过基因测序可早期诊断。
[Abstract]:Objective to diagnose a case of congenital glycosylation disorder (CDG),) caused by complex heterozygosity mutation of COG6 gene for early diagnosis of children with CDG and to provide evidence for intervention and outcome prediction. Methods the clinical phenotypes, family sanger verification information, imaging findings, laboratory examination and follow-up information of a child with COG6 heterozygosity were summarized. The disease phenotypes of CDG caused by (COG) gene mutations in COG6 and other Golgi complexes were reviewed. Results due to preterm labor, repeated puffing and spitting for one month after birth, the main manifestations were repeated high fever with liver enzyme abnormality, skin less sweat, abnormal face and abnormal heart, lung, kidney, coagulation and nervous system. COG6 gene complex heterozygosity c.511CT (p.R171X) and c.540GA (p.E180E) were found in nuclear pedigree. C.511CT originated from mother. C.511CT was the pathogenic mutation of CDG 鈪，
本文编号：2287563
[Abstract]:Objective to diagnose a case of congenital glycosylation disorder (CDG),) caused by complex heterozygosity mutation of COG6 gene for early diagnosis of children with CDG and to provide evidence for intervention and outcome prediction. Methods the clinical phenotypes, family sanger verification information, imaging findings, laboratory examination and follow-up information of a child with COG6 heterozygosity were summarized. The disease phenotypes of CDG caused by (COG) gene mutations in COG6 and other Golgi complexes were reviewed. Results due to preterm labor, repeated puffing and spitting for one month after birth, the main manifestations were repeated high fever with liver enzyme abnormality, skin less sweat, abnormal face and abnormal heart, lung, kidney, coagulation and nervous system. COG6 gene complex heterozygosity c.511CT (p.R171X) and c.540GA (p.E180E) were found in nuclear pedigree. C.511CT originated from mother. C.511CT was the pathogenic mutation of CDG 鈪，
本文编号：2287563
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