NFIX基因变异致过度生长、巨头和智力障碍1例并文献复习

李思秀, 邓佳, 王燕娟, 张婧, 刘平, 胡文广

中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (5) : 572-575.

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中国儿童保健杂志 ›› 2024, Vol. 32 ›› Issue (5) : 572-575. DOI: 10.11852/zgetbjzz2023-0591
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NFIX基因变异致过度生长、巨头和智力障碍1例并文献复习

  • 李思秀, 邓佳, 王燕娟, 张婧, 刘平, 胡文广
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Case report and literature review on NFIX gene variation associated overgrowth, macrocephaly and intellectual disability

  • LI Sixiu, DENG Jia, WANG Yanjuan, et al
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李思秀, 邓佳, 王燕娟, 张婧, 刘平, 胡文广. NFIX基因变异致过度生长、巨头和智力障碍1例并文献复习[J]. 中国儿童保健杂志. 2024, 32(5): 572-575 https://doi.org/10.11852/zgetbjzz2023-0591
LI Sixiu, DENG Jia, WANG Yanjuan, et al. Case report and literature review on NFIX gene variation associated overgrowth, macrocephaly and intellectual disability[J]. Chinese Journal of Child Health Care. 2024, 32(5): 572-575 https://doi.org/10.11852/zgetbjzz2023-0591
中图分类号: R725.9   

参考文献

[1] Brioude F, Toutain A, Giabicani E, et al. Overgrowth syndromes - clinical and molecular aspects and tumour risk[J]. Nat Rev Endocrinol, 2019, 15(5):299-311.
[2] Malan V,Rajan V, Thomas S, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome[J]. Am J Hum Genet, 2010, 87(2):189-198.
[3] Priolo M, Schanze D, Tatton-Brown K,et al. Further delineation of Malan syndrome[J]. Hum Mutat, 2018, 39(9):1226-1237.
[4] Tabata K, Iida A, Takeshita E, et al. A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding[J]. J Neurol Sci, 2020, 412:116758.
[5] Macchiaiolo M, Panfili FM, Vecchio D, et al. A deep phenotyping experience:Up to date in management and diagnosis of Malan syndrome in a single center surveillance report[J]. Orphanet J Rare Dis, 2022, 17(1):235.
[6] Dong HY,Zeng H, Hu YQ, et al. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome[J]. Mol Cytogenet, 2016, 9:71.
[7] 禹超南,吕楠,李东晓,等. NFIX 基因新发变异致Malan 综合征1 例并文献复习[J]. 中国临床案例成果数据库, 2022, 4(1):e06082.
Yu CN,Lyu N, Li DX, et al. A case report and literature review of Malan syndrome caused by a new gene variation of NFIX[J]. Chinese Medical Case Repository, 2022, 4(1):e06082.(in Chinese)
[8] Yan H, Shi Z, Wu Y, et al. Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay:Novel mutations and candidate gene[J]. BMC Med Genet, 2019, 20(1):80.
[9] Sihombing NRB, Winarni TI, Bokhoven Hv, et al. Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism[J]. Am J Med Genet A, 2020, 182(11):2731-2736.
[10] Hancarova M, Havlovicova M, Putzova M, et al. Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome[J]. Am J Med Genet A, 2019, 179(10):2119-2123.
[11] Bellucco FT, Mello CB, Meloni VA, et al. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes:Case report and review of the literature[J]. Mol Genet Genomic Med, 2019, 7(12):e997.
[12] Jezela-Stanek A, Kucharczyk M, Falana K, et al. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant[J]. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub, 2016, 160(1):161-167.
[13] Richards S, Aziz N, Bale S, et al. 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[J]. Genet Med, 2015, 17(5):405-424.
[14] Gurrieri F, Cavaliere ML, Wischmeijer A, et al. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome):A new patients series[J]. Eur J Med Genet, 2015, 58(9):488-491.
[15] Harris L,Zalucki O, Clément O, et al. Neurogenic differentiation by hippocampal neural stem and progenitor cells is biased by NFIX expression[J]. Development, 2018, 145(3):dev155689.
[16] Rossi G,Antonini S, Bonfanti C, et al. NFIX Regulates Temporal progression of muscle regeneration through modulation of myostatin expression[J]. Cell Rep, 2016, 14(9):2238-2249.
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基金

四川省科技厅课题(2023JDKP0070);成都市医学科研课题(202306013918);成都市高水平临床重点专科建设项目(2022)

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