Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country

被引:4
作者
Akbar, Fizza [1 ]
Saleh, Raisa [2 ]
Kirmani, Salman [1 ]
Chand, Prem [1 ]
Mukhtiar, Khairunnisa [1 ]
Jan, Farida [3 ]
Kumar, Raman [3 ]
Ibrahim, Shahnaz [1 ,4 ]
机构
[1] Aga Khan Univ, Dept Paediat & Child Hlth, Karachi, Pakistan
[2] Aga Khan Univ, Med Coll, Karachi, Pakistan
[3] Liaquat Natl Hosp & Med Coll, Karachi, Pakistan
[4] Aga Khan Univ Hosp, Natl Stadium Rd, Karachi 74800, Sindh, Pakistan
关键词
Next-Generation Sequencing; Monogenic Epilepsy; Genetic Testing; Neurogenetics; Precision Medicine; LMICs; DIAGNOSTIC YIELD; MUTATIONS; DIVERSITY; VARIANTS; SEQUENCE;
D O I
10.1016/j.ebr.2022.100575
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Monogenic epilepsies are a significant etiology of pediatric epilepsy. These are now more easily identified due to advances in genetic testing. However, the utility of genetic testing in low to middle-income coun-tries (LMICs) has not been fully explored. A retrospective review was carried out in Karachi, Pakistan. Patients with symptoms suggestive of genetic epilepsy underwent next-generation sequencing (NGS). Seventy-seven patients were tested, of which 27 % (n = 21) initially had pathogenic (P) or likely patho-genic (LP) results. This increased to 32 % (n = 25) after clinical reclassification of some variants of uncer-tain significance (VUSs) based on American College of Medical Genetics and Genomics (ACMG) guidelines. Initially, 6 % of patients (n = 5) had no P/LP or VUS, and 66 % (n = 51) had at least one VUS. After variant resolution and reclassification, results were negative for 25% (n = 19) and 43% (n = 33) had VUSs. Genetic testing was positive in one-third of our population. The proportion of P/LP variants found in SCN1A is higher than that found in other populations, and we report two novel variants in SCN1A. The yield of genetic testing in our population is comparable to that found in North America. Initially, a higher proportion of our population had inconclusive results, indicating the need for better characterization of the South Asian genotype. (c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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页数:9
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