UNC80合并ZIC1变异致婴儿型肌张力低下伴精神运动发育退化和特殊面容2型合并结构性脑异常伴智力发育受损和颅缝早闭1例
A case of infantile hypotonia with psychomotor retardation and characteristic facies-2(IHPRF2)combined with structural brain anomalies with impaired intellectual development and craniosynostosis(BAIDCS)caused by UNC80 and ZIC1 mutations
赖明昱 1弓毅谷 2叶新华2
作者信息
- 1. 兰州大学第一临床医学院,甘肃兰州 730000
- 2. 兰州大学第一医院儿科,甘肃兰州 730000
- 折叠
摘要
目的 探讨UNC80和ZIC1基因变异致婴儿型肌张力低下伴精神运动发育退化和特殊面容2型(IHPRF2)和结构性脑异常伴智力发育受损和颅缝早闭(BAIDCS1)患儿的临床表现及基因型.方法 对兰州大学第一医院就诊的1例IHPRF2合并BAIDCS1患儿的临床表现及基因型进行分析,对近年来与UNC80和ZIC1基因变异相关IHPRF2和BAIDCS1文献进行总结和分析.结果 患儿存在小头畸形、生长发育迟缓、智力受损、肌张力异常等临床表现,对患儿基因组DNA行全外显子组基因检测发现UNC80和ZIC1存在基因变异,诊断为IHPRF2合并BAIDCS.结论 IHPRF2和BAIDCS对患儿生长发育影响重大,基因检测对明确此病有重要意义,目前该病报道较少,故提高临床医师对该病的认识至关重要.
Abstract
Objective To investigate the clinical manifestations and genotypes of patients with infantile hypotonia with psychomotor retardation and characteristic facies-2(IHPRF2)and structural brain anomalies with impaired intellectual development and craniosynostosis(BAIDCS)caused by UNC80 and ZIC1 mutations.Methods We analyzed the clinical pres-entation and genotype of a child with IHPRF2 and BAIDCS in the First Hospital of Lanzhou University,and we summarized the literature on IHPRF2 and BAIDCS in recent years.Results The child had microcephaly,growth retardation,impaired in-telligence,abnormal muscle tone,and other clinical manifestations.Exome-wide genetic testing of the child's genomic DNA revealed mutations in UNC80 and ZIC1,leading to the diagnosis of IHPRF2 and BAIDCS.Conclusion IHPRF2 and BAIDCS have a significant impact on the growth and development of children,and genetic testing is important for clarifying this dis-ease,which is currently underreported,so it is crucial to raise clinicians'awareness of this disease.
关键词
UNC80基因/ZIC1基因/婴儿型肌张力低下伴精神运动发育退化和特殊面容2型/结构性脑异常伴智力发育受损和颅缝早闭Key words
UNC80/ZIC1/IHPRF2/BAIDCS引用本文复制引用
出版年
2024
NETL
NSTL
万方数据