儿童神经系统疾病的基因组探索：病例系列
Genomic exploration of pediatric neurological disorders: a case series.
作者信息
Tayade Naresh, Manoj Gautham, Kewat Akshay, A Anjali Krishna, Devulapalli Rajiv, Kumar Somesh, Polipalli Sunil Kumar, Nair Bipin G, Bandapalli Obul Reddy, Suravajhala Prashanth
机构信息
Department of Pediatrics, Dr Panjabrao Deshmukh Medical College Amravati and Life Care Hospitals, Amaravati, 444601, India.
Amrita School of Biotechnology, Amrita Vishwa Vidyapeetham, Clappana PO, 690525, India.
出版信息
J Med Case Rep. 2025 Jan 31;19(1):43. doi: 10.1186/s13256-025-05052-1.
BACKGROUND
Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosis can be achieved in only 60% of cases.
CASE PRESENTATION
We explore three Indian cases of pediatric neurological diseases (with age presented at the clinic), viz. arthrogryposis (8 years), autism (18 months), and congenital bilateral cataract (3 years), by analyzing clinical exomes. In this work, we attempt to understand rare neurological disorders in an Indian pediatric cohort using exome studies.
CONCLUSION
We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes and disease correlation to neuroleptic malignant syndrome, which matches the phenotype to the cases.
背景
儿科神经系统疾病包括导致认知障碍和视力丧失的神经退行性疾病。它们是病因多样的儿童发病和死亡的重要原因之一。尽管进行了基因研究，但诊断仍很困难，只有60%的病例能最终确诊。
病例报告
我们通过分析临床外显子组，探讨了三例印度儿科神经系统疾病病例（就诊时的年龄），即先天性多发性关节挛缩症（8岁）、自闭症（18个月）和先天性双侧白内障（3岁）。在这项工作中，我们试图通过外显子组研究了解印度儿科队列中的罕见神经系统疾病。
结论
我们使用经过基准测试的CONVEX流程筛选一致性变异，其中发现EIF2B2具有内在致病性。我们绘制了变异与基因以及疾病与抗精神病药恶性综合征的关联图谱，这与病例的表型相符。
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