山西医科大学学报2025，Vol.56Issue(2)：193-199,7.DOI:10.13753/j.issn.1007-6611.2025.02.012
先天性糖基化障碍Ⅰa型伴反复呼吸道感染一家系分析并文献复习
Congenital disorder of glycosylation type Ⅰa with recurrent respiratory infections:a family analysis and literature review
摘要
Abstract
Objective To investigate the clinical and genetic characteristics of PMM2 gene-related congenital disorder of glycosylation(CDG)with recurrent respiratory infections in patients.Methods Clinical data were collected from a child with congenital disorder of glycosylation type Ⅰa with recurrent respiratory infections.The suspected pathogenic mutation fragments of the proband and his family members were subjected to Sanger sequencing.The literature containing the keywords of"PMM2-CDG""congenital disorder of glyco-sylation type Ⅰa""CDG"and/or"PMM2 gene"published in PubMed,China National Knowledge Infrastructure,and Wanfang data-base were collected.And together with the literature,the clinical phenotype,imaging,and genetic characteristics of PMM2-CDG pa-tients were summarized.Results The 3-year-old male proband presented with delayed speech and motor development,nystagmus,esotropia,and high muscle tension,accompanied by recurrent respiratory tract infections.A brain MRI of the proband at the age of 2 years and 11 months showed cystic lesions of posterior cranial fossa with hypoplasia of the cerebellar inferior vermis and hemisphere.The whole-exome sequencing(WES)of the family indicated that the proband had a compound heterozygous variant of paternally de-rived c.385G>A(p.Val129Met)and maternally derived c.395T>C(p.Ile132Thr)in the PMM2 gene,leading to a diagnosis of congenital disorder of glycosylation type Ⅰa(CDG-Ⅰa);and the sister was wild-type at both loci.A total of 26 cases in 15 domestic relevant articles and one case in this study were reported.The main clinical features of CDG-Ⅰa patients in China were developmental delay(92.6%),dystonia(77.8%),cerebellar atrophy/hypoplasia(63.0%),esotropia(48.1%),inverted nipples(33.3%),gluteal fat pads(22.2%),epilepsy/convulsions(14.8%),etc.Three cases were homozygous variants of PMM2 gene and 24 cases were compound heterozygous variants.A total of 23 genetic variant loci were involved,including 18 missense variants,four frameshift variants and one splice variant.Conclusion Pathogenic variants in the PMM2 gene have been associated with multi-system abnormalities affecting the nervous system,heart and immune system.And PMM2 gene testing should be performed promptly in patients with suspected CDG to clarify the diagnosis as early as possible.关键词
PMM2基因/先天性糖基化障碍/呼吸道感染/基因变异/全面发育迟缓Key words
PMM2 gene/congenital disorder of glycosylation/respiratory tract infections/gene variant/global developmen-tal delay分类
医药卫生引用本文复制引用
张振坤,谢振华,刘菁,肖梦君,李娴,张强,张耀东,王海军,李东晓..先天性糖基化障碍Ⅰa型伴反复呼吸道感染一家系分析并文献复习[J].山西医科大学学报,2025,56(2):193-199,7.基金项目
国家自然科学基金资助项目(82000850) （82000850）
