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

作　　者：赖明昱 弓毅谷[2] 叶新华[2] LAI Mingyu;GONG Yigu;YE Xinhua(The First School of Clinical Medicine of Lanzhou University,Lanzhou,Gansu 730000,China;Department of Pediatrics,The First Hospital of Lanzhou University,Lanzhou,Gansu 730000,China)

机构地区：[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

出　　处：《中国优生与遗传杂志》2024年第7期1453-1458,共6页Chinese Journal of Birth Health & Heredity

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。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 ZICI,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 

分 类 号：R725.9[医药卫生—儿科]