基因内缺失作为一种沃曼病的新型突变。
Intragenic deletion as a novel type of mutation in Wolman disease.
机构信息
Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA.
出版信息
Mol Genet Metab. 2011 Dec;104(4):703-5. doi: 10.1016/j.ymgme.2011.09.006. Epub 2011 Sep 14.
Abstract
Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular cholesteryl esters and triglycerides. We describe a case of lysosomal acid lipase deficiency in an infant with WD and report on a novel mutation type, intragenic deletion.
摘要
两种临床表现不同的疾病，即沃曼病（WD）和胆固醇酯贮积症（CESD），是由溶酶体酸性脂肪酶（LIPA）的不同突变引起的常染色体隐性遗传疾病，LIPA 编码一种参与细胞内胆固醇酯和三酰甘油水解的必需酶。我们描述了一例 WD 婴儿的溶酶体酸性脂肪酶缺乏症病例，并报告了一种新的突变类型，即基因内缺失。
相似文献
1
Intragenic deletion as a novel type of mutation in Wolman disease.基因内缺失作为一种沃曼病的新型突变。
Mol Genet Metab. 2011 Dec;104(4):703-5. doi: 10.1016/j.ymgme.2011.09.006. Epub 2011 Sep 14.
2
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.溶酶体脂肪酶缺乏症：十一例沃曼病或胆固醇酯贮积病患者的分子特征。
Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.
3
4
Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.溶酶体酸性脂肪酶缺乏症：沃尔曼病和胆固醇酯贮积病的诊断与治疗
Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:125-32.
5
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.溶酶体酸性脂肪酶缺乏症的全球患病率和遗传谱：一种模仿 NAFLD 的罕见疾病。
J Hepatol. 2019 Jan;70(1):142-150. doi: 10.1016/j.jhep.2018.09.028. Epub 2018 Oct 11.
6
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.遗传和生化证据表明，CESD和沃尔曼病可通过残余溶酶体酸性脂肪酶活性加以区分。
Genomics. 1996 Apr 1;33(1):85-93. doi: 10.1006/geno.1996.0162.
7
Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.导致胆固醇酯贮积病（CESD）表型的人类溶酶体酸性脂肪酶基因（LIPA）突变的表达及功能特性
Protein Expr Purif. 2015 Jun;110:22-9. doi: 10.1016/j.pep.2014.12.009. Epub 2015 Jan 22.
8
Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.溶酶体酸性脂肪酶缺乏症患者的识别与代谢谱分析。
J Clin Lipidol. 2015 Sep-Oct;9(5):716-26.e1. doi: 10.1016/j.jacl.2015.07.008. Epub 2015 Jul 26.
9
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.儿童期起病溶酶体酸性脂肪酶缺乏症患者的分子和临床特征。回顾性研究、随访及两种新型 LIPA 致病性变异的检测。
Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26.
10
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.新型 LIPA 基因同义变异影响剪接导致溶酶体酸性脂肪酶缺乏。
Mol Genet Metab. 2019 Jul;127(3):212-215. doi: 10.1016/j.ymgme.2019.06.005. Epub 2019 Jun 15.
引用本文的文献
1
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.司贝前列素酶阿尔法酶替代疗法治疗沃尔曼病：一项长达十年随访的全国性队列研究。
Orphanet J Rare Dis. 2021 Dec 14;16(1):507. doi: 10.1186/s13023-021-02134-3.
2
Lysosomal acid lipase deficiency in pediatric patients: a scoping review.儿童患者溶酶体酸性脂肪酶缺乏症：范围综述。
J Pediatr (Rio J). 2022 Jan-Feb;98(1):4-14. doi: 10.1016/j.jped.2021.03.003. Epub 2021 May 6.
3
Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.沃尔曼病伴发继发性噬血细胞性淋巴组织细胞增生症：来自沙特阿拉伯的一例病例报告及文献复习。
BMC Pediatr. 2021 Feb 10;21(1):72. doi: 10.1186/s12887-021-02541-2.
4
Genes Potentially Associated with Familial Hypercholesterolemia.与家族性高胆固醇血症相关的基因。
Biomolecules. 2019 Nov 29;9(12):807. doi: 10.3390/biom9120807.
本文引用的文献
1
Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.Wolman病造血干细胞移植的长期代谢、内分泌及神经心理转归
Bone Marrow Transplant. 2009 Jan;43(1):21-7. doi: 10.1038/bmt.2008.273. Epub 2008 Sep 8.
2
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation.非亲缘脐血移植成功治疗沃尔曼病。
Eur J Pediatr. 2007 Jul;166(7):663-6. doi: 10.1007/s00431-006-0298-6. Epub 2006 Oct 11.
3
Wolman disease successfully treated by bone marrow transplantation.骨髓移植成功治疗沃尔曼病。
Bone Marrow Transplant. 2000 Sep;26(5):567-70. doi: 10.1038/sj.bmt.1702557.
4
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.决定沃尔曼病和胆固醇酯贮积病表型的溶酶体酸性脂肪酶突变。
Mol Genet Metab. 1999 Nov;68(3):333-45. doi: 10.1006/mgme.1999.2904.
5
Fatal genetic defect causing Wolman disease.导致沃尔曼病的致命遗传缺陷。
J Inherit Metab Dis. 1999 Feb;22(1):93-4. doi: 10.1023/a:1005428122457.
6
7
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.溶酶体酸性脂肪酶组氨酸-108位点的不同错义突变在不相关的复合杂合子和半合子个体中导致胆固醇酯贮积病。
Hum Mutat. 1998;12(1):44-51. doi: 10.1002/(SICI)1098-1004(1998)12:1<44::AID-HUMU7>3.0.CO;2-O.
8
A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.一名患有沃尔曼病的日本患者溶酶体酸性脂肪酶基因的新突变（LIPA Tyr22X）
Hum Mutat. 1996;8(4):377-80. doi: 10.1002/(SICI)1098-1004(1996)8:4<377::AID-HUMU15>3.0.CO;2-#.
9
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.在三名胆固醇酯贮积病患者中检测到的溶酶体酸性脂肪酶突变体的表达。
Hum Mol Genet. 1996 Oct;5(10):1611-7. doi: 10.1093/hmg/5.10.1611.
10
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.溶酶体酸性脂肪酶基因的一种新突变导致一个非洲家族出现沃尔曼病。
J Lipid Res. 1996 Aug;37(8):1761-5.
Zotero 插件