Clinical characteristics and genetic analysis of a child with Neutral lipid storage disease with myopathy
10.3760/cma.j.cn511374-20230523-00312
- VernacularTitle:中性脂肪沉积症伴肌病患儿1例的临床特征及遗传学分析
- Author:
Yu ZHANG
1
;
Fenglei GUO
;
Nadan LU
;
Miaomiao TANG
;
Dao WANG
Author Information
1. 郑州大学第一附属医院儿科，郑州 450052
- Keywords:
Neutral lipid storage disease with myopathy;
PNPLA2 gene;
Elevated creatine kinase;
Children
- From:
Chinese Journal of Medical Genetics
2024;41(7):840-843
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical phenotype and genetic basis of a child with Neutral lipid storage disease with myopathy (NLSDM).Methods:A child who was admitted to the First Affiliated Hospital of Zhengzhou University in February 2021 for a history of elevated creatine kinase (CK) for over 2 months was selected as the study subject. Clinical and laboratory examinations were carried out, and the child was subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing of her family members.Results:The patient, a 9-year-old female, had exhibited weakness in the lower limbs, elevated CK level, and refractory cardiomyotrophy. Genetic testing revealed that she has harbored c. 32C>G (p.S11W) and c. 516C>G (p.N172K) compound heterozygous variants of the PNPLA2 gene, which were respectively inherited from her mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PM1+ PM2_Supporting+ PP3+ PP4). Conclusion:The c. 32C>G (p.S11W) and c. 516C>G (p.N172K) compound heterozygous variants of the PNPLA2 gene probably underlay the myasthenia gravis and elevated creatine kinase in this child.
