儿童脑白质营养不良的临床遗传学研究进展

doi:10.7499/j.issn.1008-8830.2202020

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Abstract Leukodystrophy (LD) is a group of genetic heterogeneous diseases characterized by primary abnormalities in glial cells and myelin sheath, and it is a common nervous system disease in children and has significant genotype-phenotype correlation. In recent years, the improvement in high-throughput sequencing has changed the diagnostic and therapeutic mode of LD, and elaborative phenotype analysis, such as the collection of natural history and multimodal neuroimaging evaluation during development, also provides important information for subsequent genetic diagnosis. This article reviews LD from the perspective of clinical genetics, in order to improve the awareness of this disease among pediatricians in China.

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	HUANG Zhe-Lan
	ZHOU Wen-Hao

Key words： Leukodystrophy Clinical genetics Gene Child

Received: 09 February 2022

Cite this article:

HUANG Zhe-Lan,ZHOU Wen-Hao. Research advances in the clinical genetics of leukodystrophy in children[J]. CJCP, 2022, 24(6): 711-716.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2202020 OR http://www.zgddek.com/EN/Y2022/V24/I6/711

	Morell P. A correlative synopsis of the leukodystrophies[J]. Neuropediatrics, 1984, 15 Suppl: 62-65. PMID: 6546165. DOI: 10.1055/s-2008-1052383.
	Vanderver A, Prust M, Tonduti D, et al. Case definition and classification of leukodystrophies and leukoencephalopathies[J]. Mol Genet Metab, 2015, 114(4): 494-500. PMID: 25649058. PMCID: PMC4390457. DOI: 10.1016/j.ymgme.2015.01.006.
	van der Knaap MS, Schiffmann R, Mochel F, et al. Diagnosis, prognosis, and treatment of leukodystrophies[J]. Lancet Neurol, 2019, 18(10): 962-972. PMID: 31307818. DOI: 10.1016/S1474-4422(19)30143-7.
	Vanderver A, Hussey H, Schmidt JL, et al. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders[J]. Semin Pediatr Neurol, 2012, 19(4): 219-223. PMID: 23245555. PMCID: PMC3797524. DOI: 10.1016/j.spen.2012.10.001.
	Soderholm HE, Chapin AB, Bayrak-Toydemir P, et al. Elevated leukodystrophy incidence predicted from genomics databases[J]. Pediatr Neurol, 2020, 111: 66-69. PMID: 32951664. PMCID: PMC7506144. DOI: 10.1016/j.pediatrneurol.2020.06.005.
	Javadikooshesh S, Zaimkohan H, Pourghorban P, et al. Pelizaeus-Merzbacher-like disease 1 caused by a novel mutation in GJC2 gene: a case report[J]. Iran J Med Sci, 2021, 46(6): 493-497. PMID: 34840390. PMCID: PMC8611227. DOI: 10.30476/IJMS.2021.87126.1736.
	Ain Ul Batool S, Almatrafi A, Fadhli F, et al. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: heterozygous carriers show seizure and mild motor function deterioration[J]. Am J Med Genet A, 2022, 188(4): 1075-1082. PMID: 34918859. DOI: 10.1002/ajmg.a.62614.
	Muirhead KJ, Clause AR, Schlachetzki Z, et al. Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome[J]. Cold Spring Harb Mol Case Stud, 2021, 7(6): a006143. PMID: 34737199. PMCID: PMC8751417. DOI: 10.1101/mcs.a006143.
	Yamamoto A, Fukumura S, Habata Y, et al. Novel HSD17B4 variants cause progressive leukodystrophy in childhood: case report and literature review[J]. Child Neurol Open, 2021, 8: 2329048X211048613. PMID: 34660840. PMCID: PMC8512218. DOI: 10.1177/2329048X211048613.
	Schmidt JL, Pizzino A, Nicholl J, et al. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing[J]. Am J Med Genet A, 2020, 182(8): 1906-1912. PMID: 32573057. DOI: 10.1002/ajmg.a.61641.
	Ratti S, Rusciano I, Mongiorgi S, et al. Lamin B1 accumulation's effects on autosomal dominant leukodystrophy (ADLD): induction of reactivity in the astrocytes[J]. Cells, 2021, 10(10): 2566. PMID: 34685544. PMCID: PMC8534128. DOI: 10.3390/cells10102566.
	Vanderver A, Simons C, Helman G, et al. Whole exome sequencing in patients with white matter abnormalities[J]. Ann Neurol, 2016, 79(6): 1031-1037. PMID: 27159321. PMCID: PMC5354169. DOI: 10.1002/ana.24650.
	Shukla A, Kaur P, Narayanan DL, et al. Genetic disorders with central nervous system white matter abnormalities: an update[J]. Clin Genet, 2021, 99(1): 119-132. PMID: 33047326. DOI: 10.1111/cge.13863.
	Bonkowsky JL, Keller S, AAP Section on Neurology , Council on Genetics. Leukodystrophies in children: diagnosis, care, and treatment[J]. Pediatrics, 2021, 148(3): e2021053126. PMID: 34426533. DOI: 10.1542/peds.2021-053126.
	Ashrafi MR, Amanat M, Garshasbi M, et al. An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies[J]. Expert Rev Neurother, 2020, 20(1): 65-84. PMID: 31829048. DOI: 10.1080/14737175.2020.1699060.
	Sarret C. Leukodystrophies and genetic leukoencephalopathies in children[J]. Rev Neurol (Paris), 2020, 176(1-2): 10-19. PMID: 31174885. DOI: 10.1016/j.neurol.2019.04.003.
	van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms[J]. Acta Neuropathol, 2017, 134(3): 351-382. PMID: 28638987. PMCID: PMC5563342. DOI: 10.1007/s00401-017-1739-1.
	Inoue K. Pelizaeus-Merzbacher disease: molecular and cellular pathologies and associated phenotypes[J]. Adv Exp Med Biol, 2019, 1190: 201-216. PMID: 31760646. DOI: 10.1007/978-981-32-9636-7_13.
	Osório MJ, Goldman SA. Neurogenetics of Pelizaeus-Merzbacher disease[J]. Handb Clin Neurol, 2018, 148: 701-722. PMID: 29478609. PMCID: PMC8167836. DOI: 10.1016/B978-0-444-64076-5.00045-4.
	Hagemann TL. Alexander disease: models, mechanisms, and medicine[J]. Curr Opin Neurobiol, 2022, 72: 140-147. PMID: 34826654. PMCID: PMC8901527. DOI: 10.1016/j.conb.2021.10.002.
	Yoshida T. Clinical characteristics of Alexander disease[J]. Neurodegener Dis Manag, 2020, 10(5): 325-333. PMID: 32847470. DOI: 10.2217/nmt-2020-0022.
	Shaimardanova AA, Chulpanova DS, Solovyeva VV, et al. Metachromatic leukodystrophy: diagnosis, modeling, and treatment approaches[J]. Front Med (Lausanne), 2020, 7: 576221. PMID: 33195324. PMCID: PMC7606900. DOI: 10.3389/fmed.2020.576221.
	Ashrafi MR, Tavasoli AR. Childhood leukodystrophies: a literature review of updates on new definitions, classification, diagnostic approach and management[J]. Brain Dev, 2017, 39(5): 369-385. PMID: 28117190. DOI: 10.1016/j.braindev.2017.01.001.
	K?hler W, Curiel J, Vanderver A. Adulthood leukodystrophies[J]. Nat Rev Neurol, 2018, 14(2): 94-105. PMID: 29302065. DOI: 10.1038/nrneurol.2017.175.
	Parikh S, Bernard G, Leventer RJ, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies[J]. Mol Genet Metab, 2015, 114(4): 501-515. PMID: 25655951. PMCID: PMC4390485. DOI: 10.1016/j.ymgme.2014.12.434.
	Pouwels PJ, Vanderver A, Bernard G, et al. Hypomyelinating leukodystrophies: translational research progress and prospects[J]. Ann Neurol, 2014, 76(1): 5-19. PMID: 24916848. DOI: 10.1002/ana.24194.
	Desai NK, Mullins ME. An imaging approach to diffuse white matter changes[J]. Radiol Clin North Am, 2014, 52(2): 263-278. PMID: 24582340. DOI: 10.1016/j.rcl.2013.11.006.
	Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders[J]. Neurology, 2009, 72(8): 750-759. PMID: 19237705. PMCID: PMC2677542. DOI: 10.1212/01.wnl.0000343049.00540.c8.
	Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing[J]. Proc Natl Acad Sci U S A, 2009, 106(45): 19096-19101. PMID: 19861545. PMCID: PMC2768590. DOI: 10.1073/pnas.0910672106.
	Kunii M, Doi H, Ishii Y, et al. Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel[J]. Clin Genet, 2018, 94(2): 232-238. PMID: 29700822. DOI: 10.1111/cge.13371.
	Bick D, Jones M, Taylor SL, et al. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases[J]. J Med Genet, 2019, 56(12): 783-791. PMID: 31023718. PMCID: PMC6929710. DOI: 10.1136/jmedgenet-2019-106111.
	Boucher AA, Miller W, Shanley R, et al. Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report[J]. Orphanet J Rare Dis, 2015, 10: 94. PMID: 26245762. PMCID: PMC4545855. DOI: 10.1186/s13023-015-0313-y.
	Eichler F, Duncan C, Musolino PL, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy[J]. N Engl J Med, 2017, 377(17): 1630-1638. PMID: 28976817. PMCID: PMC5708849. DOI: 10.1056/NEJMoa1700554.
	Ghabash G, Wilkes J, Bonkowsky JL. National U.S. patient and transplant data for Krabbe disease[J]. Front Pediatr, 2021, 9: 764626. PMID: 34900869. PMCID: PMC8660087. DOI: 10.3389/fped.2021.764626.
	Videb?k C, Stokholm J, Sengel?v H, et al. Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review[J]. JIMD Rep, 2021, 60(1): 96-104. PMID: 34258145. PMCID: PMC8260480. DOI: 10.1002/jmd2.12221.
	Page KM, Stenger EO, Connelly JA, et al. Hematopoietic stem cell transplantation to treat leukodystrophies: clinical practice guidelines from the hunter's hope leukodystrophy care network[J]. Biol Blood Marrow Transplant, 2019, 25(12): e363-e374. PMID: 31499213. DOI: 10.1016/j.bbmt.2019.09.003.
	Dooves S, Leferink PS, Krabbenborg S, et al. Cell replacement therapy improves pathological hallmarks in a mouse model of leukodystrophy vanishing white matter[J]. Stem Cell Reports, 2019, 12(3): 441-450. PMID: 30799272. PMCID: PMC6411482. DOI: 10.1016/j.stemcr.2019.01.018.
	Moser AB, Liu Y, Shi X, et al. Drug discovery for X-linked adrenoleukodystrophy: an unbiased screen for compounds that lower very long-chain fatty acids[J]. J Cell Biochem, 2021, 122(10): 1337-1349. PMID: 34056752. DOI: 10.1002/jcb.30014.
	Koshu K, Ikeda T, Tamura D, et al. Gallbladder cancer with ascites in a child with metachromatic leukodystrophy[J]. Brain Dev, 2021, 43(1): 140-143. PMID: 32855001. DOI: 10.1016/j.braindev.2020.08.002.
	Zheng S, Lee PY, Wang J, et al. Interstitial lung disease and psoriasis in a child with Aicardi-Goutières syndrome[J]. Front Immunol, 2020, 11: 985. PMID: 32508843. PMCID: PMC7251162. DOI: 10.3389/fimmu.2020.00985.
	41 Tong F, Wang J, Xiao R, et al. Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts[J]. World J Pediatr, 2022. PMID: 35292922. DOI: 10.1007/s12519-022-00522-8.