一例琥珀酸半醛脱氢酶缺陷症患儿的基因变异分析CSCD |
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引用本文: | 闫单单,徐晓薇,王学韬,张新杰,支秀芳,王洪,张玉琴,舒剑波.一例琥珀酸半醛脱氢酶缺陷症患儿的基因变异分析CSCD[J].中华医学遗传学杂志,2022(2):216-221. |
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作者姓名: | 闫单单 徐晓薇 王学韬 张新杰 支秀芳 王洪 张玉琴 舒剑波 |
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作者单位: | 1.天津市儿童医院(天津大学儿童医院)300134;2.天津市儿科研究所300134;3.天津市儿童出生缺陷防治重点实验室300134; |
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基金项目: | 国家自然科学基金(81771589);天津市卫生行业重点攻关项目(16KG166);天津市重大疾病防治科技重大专项(18ZXDBSY00170);天津市卫生健康科技项目(ZC20120,ZC20107)。 |
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摘 要: | 目的探讨1例琥珀酸半醛脱氢酶缺陷症患儿的遗传学病因。方法采集患儿及其父母的外周血样,提取基因组DNA,用Sanger测序和全外显子组测序对患儿及其父母进行检测,分析变异位点的致病性。结果Sanger测序结果提示患儿携带ALDH5A1基因c.1529C>T(p.S510F)纯合变异,其母亲为杂合型,父亲未检测到此变异。全外显子组测序发现患儿及其父亲均携带ALDH5A1基因片段缺失(chr6:24403265-24566986)。结论ALDH5A1基因c.1529C>T变异及缺失是患儿的致病原因。全外显子组测序能同时检测碱基变异和基因片段缺失,为患儿的诊断和遗传咨询提供依据。
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关 键 词: | 琥珀酸半醛脱氢酶缺乏症 ALDH5A1基因 全外显子组测序 4-羟基丁酸 基因变异 |
Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiencyCSCD |
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Institution: | 1.Children's Hospital of Tianjin University, Tianjin Children's Hospital, Tianjin300134;2.Tianjin Pediatric Research Institute, Tianjin300134;3.Tianjin Key Laboratory for Prevention and Treatment of Birth Defects, Tianjin300134; |
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Abstract: | Objective To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency. Methods Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites. Results Sanger sequencing showed that the proband carried a homozygous c. 1529C>T (p.S510F)variant of the ALDH5A1 gene, for which his mother was a carrier. The same variant was not detected in his father. However, high-throughput sequencing revealed that the child and his father both had a deletion of ALDH5A1 gene fragment(chr6: 24 403 265-24 566 986). Conclusion The c. 1529C>T variant of the ALDH5A1 gene and deletion of ALDH5A1 gene fragment probably underlay the disease in the child. High-throughput sequencing can detect site variation as well as deletion of gene fragment, which has enabled genetic diagnosis and counseling for the family. © 2022 West China University of Medical Sciences. All rights reserved. |
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Keywords: | 4-hydroxybutyrate ALDH5A1 gene Genetic varian Succinic semialdehyde dehydrogenase deficiency Whole exome sequencing |
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