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Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.

作者信息

Zhu Hui, Zhong Yi, Zhu Shuyao

机构信息

Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.

Department of Pediatrics, Zigong First People's Hospital, Zigong, Sichuan, China.

出版信息

Ann Indian Acad Neurol. 2024 Nov 1;27(6):729-731. doi: 10.4103/aian.aian_324_24. Epub 2024 Oct 4.

DOI:10.4103/aian.aian_324_24
PMID:39363617
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11745236/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99a9/11745236/53b56e188043/AIAN-27-729-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99a9/11745236/146d5dc14eac/AIAN-27-729-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99a9/11745236/53b56e188043/AIAN-27-729-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99a9/11745236/146d5dc14eac/AIAN-27-729-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99a9/11745236/53b56e188043/AIAN-27-729-g002.jpg

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Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.BCKDHB基因中的两个新突变导致中间型枫糖尿症。
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[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].[一名中国新生儿中由两个新的BCKDHB基因突变引起的枫糖尿症]
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本文引用的文献

1
Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.肾-肝-胰腺发育不良 1 伴新型 NPHP3 基因型：病例报告及文献复习。
BMC Pediatr. 2022 Oct 18;22(1):603. doi: 10.1186/s12887-022-03659-7.
2
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.新生儿筛查诊断中间型枫糖尿症的挑战以及基因组结果的功能验证对生殖计划生育至关重要。
Int J Neonatal Screen. 2021 May 14;7(2):25. doi: 10.3390/ijns7020025.
3
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
支链α-酮酸脱氢酶缺乏症（枫糖尿症）：治疗、生物标志物和结局。
Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16.
4
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.两个导致枫糖尿症的 BCKDHB 基因突变。
Pediatr Neonatol. 2018 Oct;59(5):515-519. doi: 10.1016/j.pedneo.2018.01.006. Epub 2018 Jan 6.
5
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.BCKDHB基因中的两个新型复合杂合突变导致间歇性枫糖尿症。
Metab Brain Dis. 2015 Dec;30(6):1395-400. doi: 10.1007/s11011-015-9711-z. Epub 2015 Aug 4.
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
7
Tp-e interval, Tp-e/QT ratio, and Tp-e/QTc ratio are prolonged in patients with moderate and severe obstructive sleep apnea.中重度阻塞性睡眠呼吸暂停患者的Tp-e间期、Tp-e/QT比值和Tp-e/QTc比值延长。
Pacing Clin Electrophysiol. 2012 Aug;35(8):966-72. doi: 10.1111/j.1540-8159.2012.03439.x. Epub 2012 Jun 5.
8
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.经典型和变异型枫糖尿症患者中十二个新突变的鉴定
Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9187.