一例婴儿NALCN基因杂合突变所致先天性关节挛缩、全面发育迟缓报道  

A case report of congenital arthrogryposis and total growth retardation caused by heterozygous mutation of NALCN gene in infant

作　　者：李颖 石凯丽 LI Ying;SHI Kaili(Department of Neurology,Women and Children’s Medical Center Affiliated to Guangzhou Medical University,Guangdong Province,Guangzhou 510000,China)

机构地区：[1]广州医科大学附属妇女儿童医疗中心神经内科,广东广州510000

出　　处：《妇儿健康导刊》2024年第12期38-42,共5页JOURNAL OF WOMEN AND CHILDREN'S HEALTH GUIDE

基　　金：广州市妇女儿童医疗中心临床博士启动科研基金(2020RC002)。

摘　　要：NALCN基因编码钠离子渗漏通道,调节神经元的静息电导和兴奋性。NALCN基因纯合突变或杂合突变均有致病性,一种为CLIFAHDD(常染色体显性先天性四肢和面部挛缩、肌张力低下和发育迟缓,OMIM#616266),另一种为IHPRF(婴儿肌张力低下伴精神运动迟缓和特征性面容,OMIM#615419)。本文报道1例新生儿期确诊的CLIFAHDD综合征患儿,全外显子基因测序证实患儿NALCN基因突变(c.3542G>A),父母该基因均正常,为新发突变,结合相关文献进行复习总结,以提高儿科医师对该病的认识,减少漏诊和误诊。The NALCN gene encodes sodium ion leakage channels,and regulates the resting conductance and excitability of neurons.Both homozygous and heterozygous mutations in the NALCN gene are pathogenic,with one being CLIFAHDD(autosomal dominant congenital contracture of the limbs and face,hypotonia,and growth retardation,OMIM#616266),and the other being IHPRF(infantile hypotonia with psychomotor retardation,and characteristic facies,OMIM#615419).This paper reported a case of CLIFAHDD syndrome diagnosed in the neonatal period,whose NALCN gene mutation(c.3542G>A)was confirmed by whole exon gene sequencing.This gene was normal in both parents and was a new mutation.Relevant literature was reviewed and summarized to improve pediatricians’cognition of the disease and reduce missed diagnosis and misdiagnosis.

关 键 词：NALCN基因 CLIFAHDD综合征 先天性关节挛缩 全面发育迟缓 

分 类 号：R394[医药卫生—医学遗传学]