摘要
目的 对一例新生儿Joubert综合征的临床特点和基因学特点分析,提高对该病的早期诊断。方法 回顾性分析珠海市妇幼保健院收治的一例Joubert综合征患儿的临床资料及全外显子组测序结果,并对相关文献资料进行复习。结果 Joubert综合征是一种罕见的常染色体隐性遗传病。本文报道新生儿Joubert综合征,患儿表现为异常呼吸、肌张力减退,经治疗好转出院,随访发现患儿仍有阵发性气促、肌张力低下和发育迟缓等表现。颅脑MRI示第四脑室具有“磨牙征”“中线裂”及“蝙蝠翼状”等。全外显子组测序显示患儿CC2D2A基因为复合杂合突变,c.2049C>A(p.Tyr683*)为新的杂合突变位点,来源于母亲;c.2999A>T(p.Glu1000Val)位点杂合突变来源于父亲。结论 CC2D2A基因的c.2049C>A(p.Tyr683*)和c.2999A>T(p.Glu1000Val)位点复合杂合突变是该患儿的致病原因,根据此变异位点可进行产前诊断及优生咨询。
Objective To analyze the clinical and genetic characteristics of a case of neonatal Joubert syndrome and to improve the early diagnosis of this disease.Methods Retrospective analysis of clinical data and whole exome sequencing results of a child with Joubert syndrome admitted to Zhuhai Center for Maternal and Child Health Care,and review of relevant literature.Results Joubert syndrome is a rare autosomal recessive inherited disease.This article reports a case of Joubert syn-drome in a newborn.The child in this case showed abnormal breathing and hypotonia and was discharged after treatment.The follow-up showed that the child still had paroxysmal shortness of breath,hypotonia and developmental delay.The Brain MRI showed that the fourth ventricle had"molar sign","midline cleft sign"and"bat wing sign".The whole exome sequencing showed that the c.2049C>A(p.Tyr683*)of CC2D2A gene was a new heterozygous mutation site and derived from the mother;the c.2999A>T(p.Glu1000Val)site heterozygous mutation derived from the father.Conclusion The compound heterozygous mutations at the c.2049C>A(p.Tyr683*)and c.2999A>T(p.Glu1000Val)sites of the CC2D2A gene are the cause of the disease in this child.Prenatal diagnosis and eugenics counseling can be made based on these mutation sites.
作者
霍乐颍
李讯
姜春明
HUO Leying;LI Xun;JIANG Chunming(Department of Neonatology,Zhuhai Center for Maternal and Child Health Care,Zhuhai,Guangdong 519000,China)
出处
《中国优生与遗传杂志》
2024年第7期1450-1452,共3页
Chinese Journal of Birth Health & Heredity
