Journal of Shandong University (Health Sciences) ›› 2024, Vol. 62 ›› Issue (7): 114-119.doi: 10.6040/j.issn.1671-7554.0.2024.0284
• 病例报道 • Previous Articles Next Articles
CLC Number:
| [1] Numata Y, Gotoh L, Iwaki A, et al. Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies[J]. J Neurol, 2014, 261(4):752-758. [2] Ji HR, Li DX, Wu Y, et al. Hypomyelinating disorders in China: the clinical and genetic heterogeneity in 119 patients[J]. PLoS One, 2018, 13(2): e0188869. doi:10.1371/journal.pone.0188869. [3] Bernard G, Chouery E, Putorti ML, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy[J]. Am J Hum Genet, 2011, 89(3): 415-423. [4] Sun L, Lin WH, Meng HM, et al. A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review[J]. Front Neurol, 2023, 14: 1269237. doi:10.3389/fneur.2023.1269237. [5] Campopiano R, Ferese R, Zampatti S, et al. A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset[J]. BMC Neurol, 2020, 20(1): 258. [6] 李玲, 朱泽宇, 曹立, 等. 中年女性, 进行性走路困难35年余: POLR3A基因复合杂合突变致HLD7[J]. 中国神经精神疾病杂志, 2022, 48(3): 188-192. LI Ling, ZHU Zeyu, CAO Li, et al. One middle-aged female with progressive walking difficulties for more than 35 years—a case of HLD7 due to compound heterozygous mutation of POLR3A gene[J]. Chinese Journal of Nervous and Mental Diseases, 2022, 48(3): 188-192. [7] La Piana R, Cayami FK, Tran LT, et al. Diffuse hypomyelination is not obligate for POLR3-related disorders[J]. Neurology, 2016, 86(17): 1622-1626. [8] 何芳,毛蕾蕾,庞楠,等.POLR3A基因复合杂合突变导致全面发育落后合并癫痫、纹状体变性[J].中华神经科杂志, 2021, 54(12): 1282-1289. HE Fang, MAO Leilei, PANG Nan, et al. Compound heterozygous mutations in POLR3A gene cause global developmental delay with epilepsy and striatal degeneration[J]. Chinese Journal of Neurology, 2021, 54(12): 1282-1289. [9] Minnerop M, Kurzwelly D, Wagner H,et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia[J]. Brain, 2017, 140(6): 1561-1578. [10] Coulombe B, Derksen A, la Piana R,et al. POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?[J]. Fac Rev, 2021, 10: 12. doi:10.12703/r/10-12. [11] Dumay-Odelot H, Durrieu-Gaillard S, da Silva D, et al. Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription[J]. Cell Cycle, 2010, 9(18): 3687-3699. [12] Choquet K, Forget D, Meloche E, et al. Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200[J]. J Biol Chem, 2019, 294(18): 7445-7459. [13] Saitsu H, Osaka H, Sasaki M, et al. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy[J]. Am J Hum Genet, 2011, 89(5): 644-651. [14] Bernard G, Vanderver A. POLR3-related leukodystrophy [M/OL].// Adam MP, Feldman J, Mirzaa GM, et al. Gene Reviews®[R/OL]. Seattle: University of Washington.(2017-05-11)[2024-03-20]. https://www.ncbi.nlm.nih.gov/books/NBK99167/. [15] Wolf NI, Vanderver A, van Spaendonk RM, et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations[J]. Neurology, 2014, 83(21): 1898-1905. [16] Pelletier F, Perrier S, Cayami FK, et al. Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C[J]. J Clin Endocrinol Metab, 2021, 106(2): e660-e674. doi:10.1210/clinem/dgaa700. [17] Yang HJ, Wu ZL, Li XL, et al. A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy[J]. Neurol Sci, 2023, 44(9): 3363-3368. [18] Ahmed HS, Belarbi O, Daoudi S, et al. A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy[J]. Ro J Neurol, 2022, 21(2): 115-118. [19] Mirchi A, Guay SP, Tran LT, et al. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C[J]. J Med Genet, 2023, 60(10): 1026-1034. [20] Paolacci S, Li Y, Agolini E, et al. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome[J]. J Med Genet, 2018, 55(12): 837-846. [21] Majethia P, Girisha KM. Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A[J]. Am J Med Genet A, 2021, 185(5): 1602-1605. [22] Khan A, Al Shamsi B, Al Shehhi M, et al. Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A[J]. Mol Genet Genomic Med, 2024, 12(3): e2274. doi:10.1002/mgg3.2274. [23] Ogunjimi B, Zhang SY, Sørensen KB, et al. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections[J]. J Clin Invest, 2017, 127(9): 3543-3556. [24] Hiraide T, Kubota K, Kono Y, et al. POLR3A variants in striatal involvement without diffuse hypomyelination[J]. Brain Dev, 2020, 42(4): 363-368. [25] Ruan DD, Ruan XL, Wang RL, et al. Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation[J]. Sci Rep, 2024, 14(1): 7638. [26] di Donato I, Gallo A, Ricca I, et al. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients[J]. Neurol Sci, 2022, 43(2): 1071-1077. [27] Wambach JA, Wegner DJ, Patni N, et al. Bi-allelic POLR3A loss-of-function variants cause autosomal-recessive wiedemann-rautenstrauch syndrome[J]. Am J Hum Genet, 2018, 103(6): 968-975. [28] Perrier S, Michell-Robinson MA, Bernard G. POLR3-related leukodystrophy: exploring potential therapeutic approaches[J]. Front Cell Neurosci, 2020, 14: 631802. doi:10.3389/fncel.2020.631802. |
| [1] | LI Yun, ZHONG Wanxia, YAO Ning, HU Shuanggang, LIU Hongmao. Effects of female age on the outcome of preimplantation genetic diagnosis and screening [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2017, 55(1): 60-62. |
| [2] | CI Qianqian, WU Shengying, WAN Qiuhua, MA Yunrong, ZHAO Jianwen, ZHANG Jian. Analysis of prenatal screening and diagnostic methods in 10,265 cases of advanced maternal age [J]. Journal of Shandong University (Health Sciences), 2023, 61(1): 51-57. |
| [3] | . [J]. Journal of Shandong University (Health Sciences), 2024, 62(4): 120-124. |
| [4] | YU Wenhao, ZHANG Qian, SUN Mei, LI Hongchang, ZHU Yueting, JIANG Wenjie, YAN Junhao. Comparison of the euploidy rate of PGT-A tested embryos between long GnRH agonist and GnRH antagonist protocols [J]. Journal of Shandong University (Health Sciences), 2023, 61(1): 45-50. |
| [5] | . Improvement and application of comparative genomic hybridization in prenatal diagnosis [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2009, 47(7): 89-92. |
|
