Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients.

IF 0.8 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2026-06-16 DOI:10.1159/000553060

Maryam Naseer, Muhammad Tariq, Nadia Waheed, Bushra Khan, Dost Muhammad Kalhoro, Shahid Ali, Hammal Khan, Amir Hussain, Naseeb Ullah Kakar, Abid Ali Shah, Sufyan Suleman, Asmat Ullah

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引用次数: 0

Abstract

Introduction: Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by impaired glycogen metabolism, primarily affecting the liver and muscles.

Methods: A retrospective cross-sectional study was conducted. Medical records of 72 children afflicted with GSDs were reviewed for clinical features, family history, and consanguinity. Sequencing was performed using DNA samples from patients and their family members.

Results: Of the 72 patients, the median age at presentation was 5.0 months (interquartile range: 1.8-9.0). Common features included abdominal distension (97.2%), hepatomegaly (94.4%), doll-like facies (54.2%), and failure to thrive (53%). Other findings included acidotic breathing, developmental delay, vomiting, convulsions, and positive family history. All cases involved consanguinity. Thirty-eight pathogenic variants were identified across nine GSD-associated genes.

Conclusion: Abdominal distension, hepatomegaly, and failure to thrive are key clinical indicators of GSDs. Genetic testing improves diagnostic accuracy and classification, and our findings expand the mutational spectrum of GSDs in Pakistan.

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通过外显子组测序揭示糖原储存病的遗传基础：一项儿科患者的研究。

糖原储存病（GSDs）是一组以糖原代谢受损为特征的遗传性代谢疾病，主要影响肝脏和肌肉。方法：采用回顾性横断面研究。回顾了72例gsd患儿的临床特征、家族史和血缘关系。使用患者及其家庭成员的DNA样本进行测序。结果：在72例患者中，就诊时的中位年龄为5.0个月（四分位数范围：1.8-9.0）。常见的特征包括腹胀（97.2%）、肝肿大（94.4%）、娃娃样相（54.2%）和发育不全（53%）。其他发现包括酸中毒呼吸、发育迟缓、呕吐、抽搐和阳性家族史。所有案件都涉及亲属关系。在9个gsd相关基因中鉴定出38个致病变异。结论：腹胀、肝肿大、生长不旺是gsd的关键临床指标。基因检测提高了诊断准确性和分类，我们的发现扩大了巴基斯坦gsd的突变谱。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.