合并脑炎的Xp21邻近基因缺失综合征1例并文献复习
A Case of Xp21 Contiguous Gene Deletion Syndrome with Encephalitis and Literature Review
摘要: 目的：探讨Xp21邻近基因缺失综合征患者的临床特点和基因特征，为临床诊断提供参考。方法：回顾性分析1例Xp21邻近基因缺失综合征临床资料及染色体检测结果，并对相关文献进行复习。结果：患儿表现为发育迟缓、智力障碍、反复呕吐、反复感染、反复抽搐、低钠血症、高甘油三酯血症、高转氨酶血症、胆结石、心肌损害和肝功能损害。染色体CNV检测显示X染色体从p21.3到p21.1区域的缺失，大小为8.84 Mb，共缺失44个基因，包括4个致病基因：IL1RAPL1、GK、NROB1、DMD，诊断为Xp21邻近基因缺失综合征。结论：Xp21邻近基因缺失综合征临床表现多样，诊断困难，一旦考虑此病，需完善基因检测尽早诊断。
Abstract: Objective: To investigate the clinical and genetic characteristics of Xp21 contiguous gene deletion syndrome, and to provide reference for clinical diagnosis. Methods: We retrospectively analyzed the clinical data and chromosome test results of a boy and reviewed the relevant literature. Results: The child presented with developmental retardation, mental retardation, repeated vomiting, repeated infections, repeated convulsions, hyponatremia, hypertriglyceridemia, hypertransaminasemia, gallstones, myocardial damage, and liver function impairment. CNV test of chromosome showed a deletion of X chromosome from p21.3 to p21.1, with the size of 8.84 Mb. A total of 44 genes were deleted, including four related morbid genes: IL1RAPL1, GK, NROB1 and DMD, and he was diagnosed as Xp21 contiguous gene deletion syndrome. Conclusion: The clinical manifestations of Xp21 contiguous gene deletion syndrome are diverse and the diagnosis is difficult. Once this disease is considered, genetic testing should be carried out as soon as possible.
文章引用：伊丽萍, 潘晓宇, 陈宗波. 合并脑炎的Xp21邻近基因缺失综合征1例并文献复习[J]. 临床医学进展, 2021, 11(1): 92-98. https://doi.org/10.12677/ACM.2021.111013

参考文献

[1] Heide, S., Afenjar A., Edery, P., Sanlaville, D., Keren, B., Rouen, A., et al. (2015) Xp21 Deletion in Female Patients with Intellectual Disability: Two New Cases and a Review of the Literature. European Journal of Medical Genetics, 58, 341-345. [Google Scholar] [CrossRef] [PubMed]
[2] Fries, M.H., Lebo, R.V., Schonberg, S.A., Golabi, M., Seltzer, W.K., Gitelman, S.E., et al. (1993) Mental Retardation Locus in Xp21 Chromosome Microdeletion. American Journal of Medical Genetics, 46, 363-368. [Google Scholar] [CrossRef] [PubMed]
[3] Ma, H.W., Jiang, J., Wang, Y.P., et al. (2004) Gene Deletion Analysis of a Chinese Boy with Xp21 Contiguous Gene Deletion Syndrome. Chinese Medical Journal, 117, 789-791.
[4] 王旭, 吴迪, 方方, 姜敏. Xp21临近基因缺失综合征6例临床和遗传学研究[J]. 中华实用儿科杂志, 2015, 30(7): 535-539.
[5] Minari, R., Vottero, A., Tassi, F., Viani, I., Maria Neri, T., Elisabeth Street, M., et al. (2015) A Novel Mutation in the NR0B1 Gene in a Family with Monozygotic Twin Sisters and Congenital Adrenal Hypoplasia Affected Children. Hormones, 14, 160-166. [Google Scholar] [CrossRef] [PubMed]
[6] Wikiera, B., Jakubiak, A., Zimowski, J., Noczynska, A. and Smigiel, R. (2012) Complex Glycerol Kinase Deficiency-X-Linked Contiguous Gene Syndrome Involving Congenital Adrenal Hypoplasia, Glycerol Kinase Deficiency, Muscular Duchenne Dystrophy and Intellectual Disability (IL1RAPL Gene Deletion). Pediatric Endocrinology, Diabetes, and Metabolism, 18, 153-157.
[7] Rodriguez-Estevez, A., Perez-Nanclares, G., Fernandez-Toral, J., Rivas-Crespo, F., López-Siguero, J.P., Díez, I., et al. (2015) Clinical and Molecular Characterization of Five Spanish Kindreds with X-Linked Adrenal Hypoplasia Congenita: Atypical Findings and a Novel Mutation in NR0B1. Journal of Pediatric Endocrinology & Metabolism, 28, 1129-1137. [Google Scholar] [CrossRef] [PubMed]
[8] Battistin, C., Menezes Filho, H.C., Domenice, S., Yumie Nishi, M., Della Manna, T., Kuperman, H., et al. (2012) A Novel DAX1/NR0B1 Mutation in a Patient with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism. Arquivos Brasileiros de Endocrinologia & Metabologia, 56, 496-500. [Google Scholar] [CrossRef] 
[9] Niakan, K.K. and Mccabe, E.R. (2015) DAX1 Origin, Function, and Novel Role. Molecular Genetics and Metabolism, 86, 70-83. [Google Scholar] [CrossRef] [PubMed]
[10] Waldrop, M.A. and Flanigan, K.M. (2019) Update in Duchenne and Becker Muscular Dystrophy. Current Opinion in Neurology, 32, 722-727. [Google Scholar] [CrossRef] 
[11] Wang, L., Chen, M., He, R., Sun, Y., Yang, J., Xiao, L., et al. (2017) Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study. Frontiers in Neurology, 8, 196. [Google Scholar] [CrossRef] [PubMed]
[12] Mavrogeni, S., Markousis-Mavrogenis, G., Papavasiliou, A. and Kolovou, G. (2015) Cardiac Involvement in Duchenne and Becker Muscular Dystrophy. World Journal of Cardiology, 7, 410-414. http://dx.doi.org/10.4330/wjc.v7.i7.410 [Google Scholar] [CrossRef] [PubMed]
[13] Veropalumbo, C., Esposito, G., Esposito, G., Maddaluno, S., Ruggiero, L. and Vajro, P. (2012) Aminotransferases and Muscular Diseases: A Disregarded Lesson. Case Reports and Review of the Literature. Journal of Paediatrics and Child Health,48, 886-890. [Google Scholar] [CrossRef] [PubMed]
[14] Miao, J., Feng, J.C., Zhu, D. and Yu, X.-F. (2016) A Case Report: Becker Muscular Dystrophy Presenting with Epilepsy and Dysgnosia Induced by Duplication Mutation of Dystrophin Gene. BMC Neurology, 16, Article No. 255. [Google Scholar] [CrossRef] [PubMed]
[15] 李秀珍, 刘丽, 梅慧芬. 儿童复合型甘油激酶缺乏症[J]. 中国当代儿科杂志, 2007, 9(5): 441-444.
[16] Suthiworachai, C., Tammachote, R., Srichomthong, C., Ittiwut, R., Suphapeetiporn, K., Sahakitrungruang, T., et al. (2019) Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita. Journal of the Endocrine Society, 3, 171-180. [Google Scholar] [CrossRef] [PubMed]
[17] Laino, L., Bottillo, I., Piedimonte, C., Bernardini, L., Torres, B., Grammatico, B., et al. (2016) Clinical and Molecular Characterization of a Boy with Intellectual Disability, Facial Dysmorphism, Minor Digital Anomalies and a Complex IL1RAPL1 Intragenic Rearrangement. European Journal of Paediatric Neurology, 20, 971-976. [Google Scholar] [CrossRef] [PubMed]
[18] Carrie, A., Jun, L., Bienvenu, T., Vinet, M.-C., McDonell, N., Couvert, P., et al. (1999) A New Member of the IL-1 Receptor Family Highly Expressed in Hippocampus and Involved in X-Linked Mental Retardation. Nature Genetics, 23, 25-31. [Google Scholar] [CrossRef] [PubMed]
[19] Montani, C., Gritti, L., Beretta, S., Verpelli, C. and Sala, C. (2019) The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1). Developmental Neurobiology, 79, 85-95. [Google Scholar] [CrossRef] [PubMed]
[20] Chatron, N., Thibault, L., Lespinasse, J., Labalme, A., Schluth-Bolard, C., Till, M., et al. (2017) Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1. Molecular Syndromology, 8, 325-330. [Google Scholar] [CrossRef] [PubMed]

为你推荐