妇儿健康导刊2024，Vol.3Issue(12)：38-42,5.
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
摘要
Abstract
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Key words
NALCN gene/CLIFAHDD syndrome/Congenital arthrogryposis/Total growth retardation分类
医药卫生引用本文复制引用
李颖,石凯丽..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[J].妇儿健康导刊,2024,3(12):38-42,5.基金项目
广州市妇女儿童医疗中心临床博士启动科研基金(2020RC002). （2020RC002）
