<i>NR2F1</i>基因变异致婴儿癫痫性痉挛综合征一例_Journal of Epilepsy

Authors：

胡万冬 , 高在芬 , 李晓莺 , 王亚萍 , 刘勇 , 史建国 ,  张洪伟

山东大学附属儿童医院（济南市儿童医院）癫痫中心（济南 250022）;

Corresponding author：

张洪伟, Email: zhw850510@163.com

Keywords：

NR2F1基因; 婴儿癫痫性痉挛综合征; 基因型; 表型

DOI：

10.7507/2096-0247.202307014

Video：

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Citation： 胡万冬, 高在芬, 李晓莺, 王亚萍, 刘勇, 史建国, 张洪伟. NR2F1基因变异致婴儿癫痫性痉挛综合征一例. Journal of Epilepsy, 2023, 9(6): 536-540. doi: 10.7507/2096-0247.202307014 Copy

1.	Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
2.	Symonds JD, Elliot KS, Shetty J, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 2021, 144: 2879-2891.
3.	Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 2019, 142: 2303-2318.
4.	Rech ME, McCarthy JM, Chen CA, et al. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A, 2020, 182(6): 1426-1437.
5.	Bosch DG, Boonstra FN, Gonzaga-Jauregui C, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet, 2014, 94(2): 303-309.
6.	Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet, 2015, 134(6): 649-658.
7.	Chen CA, Bosch DG, Cho MT, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med, 2016, 18(11): 1143-1150.
8.	Dimassi S, Labalme A, Ville D, et al. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin Genet, 2016, 89(2): 198-204.
9.	Kaiwar C, Zimmermann MT, Ferber MJ, et al. Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud, 2017, 3(6): a002162.
10.	Martín-Hernández E, Rodríguez-García ME, Chen CA, et al. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. J Hum Genet, 2018, 63(4): 525-528.
11.	Park SE, Lee JS, Lee ST, et al. Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. Ophthalmic Genet, 2019, 40(4): 359-361.
12.	Bojanek EK, Mosconi MW, Guter S, et al. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: a case study. Am J Med Genet A, 2020, 182(1): 213-218.
13.	Bertacchi M, Romano AL, Loubat A, et al. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. EMBO J, 2020, 39(13): e104163.
14.	Mio C, Fogolari F, Pezzoli L, et al. Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome. Mol Genet Genomic Med, 2020, 8(7): e1278.
15.	Jezela-Stanek A, Ciara E, Jurkiewicz D, et al. The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. Mol Genet Genomic Med, 2020, 8(9): e1263.
16.	Hino-Fukuyo N, Kikuchi A, Yokoyama H, et al. Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. Seizure, 2017, 50: 144-146.
17.	Walsh S, Gösswein SS, Rump A, et al. Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Eur J Med Genet, 2020, 63(10): 104019.
18.	Zou W, Cheng L, Lu S, et al. A de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS. Ophthalmic Genet, 2020, 41(1): 88-89.
19.	Hobbs MM, Wolters WC, Rayapati AO. Bosch-boonstra-schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: a case report and literature review. J Psychiatr Pract, 2020, 26(1): 58-62.
20.	Kocaaga A, Yimenicioglu S, Gürsoy HH. Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. Indian J Ophthalmol, 2022, 70(7): 2762-2764.
21.	Gazdagh G, Mawby R, Self JE, et al. Deciphering developmental disorders study: a severe case of bosch-boonstra-schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene. Am J Med Genet A, 2022, 188(3): 900-906.
22.	Kingrey B, Phornphutkul C, Chen W. Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child. J AAPOS, 2021, 25(5): 314-316.
23.	戈文蓉, 万林, 杨光. Boonsta-Bosch-Schaff视神经萎缩综合征并IESS1例报告并文献复习. 解放军医学杂志, 2020, 45(9): 940-946.
24.	Starosta RT, Tarnowski J, Vairo FPE, et al. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: functional evidence for benignity of the ALG6 c. 391T>C (p. Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet, 2020, 63(7): 103941.
25.	Billiet B, Amati-Bonneau P, Desquiret-Dumas V, et al. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome. Hum Mutat, 2022, 43(2): 128-142.

1. Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
2. Symonds JD, Elliot KS, Shetty J, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 2021, 144: 2879-2891.
3. Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 2019, 142: 2303-2318.
4. Rech ME, McCarthy JM, Chen CA, et al. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A, 2020, 182(6): 1426-1437.
5. Bosch DG, Boonstra FN, Gonzaga-Jauregui C, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet, 2014, 94(2): 303-309.
6. Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet, 2015, 134(6): 649-658.
7. Chen CA, Bosch DG, Cho MT, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med, 2016, 18(11): 1143-1150.
8. Dimassi S, Labalme A, Ville D, et al. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin Genet, 2016, 89(2): 198-204.
9. Kaiwar C, Zimmermann MT, Ferber MJ, et al. Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud, 2017, 3(6): a002162.
10. Martín-Hernández E, Rodríguez-García ME, Chen CA, et al. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. J Hum Genet, 2018, 63(4): 525-528.
11. Park SE, Lee JS, Lee ST, et al. Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. Ophthalmic Genet, 2019, 40(4): 359-361.
12. Bojanek EK, Mosconi MW, Guter S, et al. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: a case study. Am J Med Genet A, 2020, 182(1): 213-218.
13. Bertacchi M, Romano AL, Loubat A, et al. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. EMBO J, 2020, 39(13): e104163.
14. Mio C, Fogolari F, Pezzoli L, et al. Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome. Mol Genet Genomic Med, 2020, 8(7): e1278.
15. Jezela-Stanek A, Ciara E, Jurkiewicz D, et al. The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. Mol Genet Genomic Med, 2020, 8(9): e1263.
16. Hino-Fukuyo N, Kikuchi A, Yokoyama H, et al. Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. Seizure, 2017, 50: 144-146.
17. Walsh S, Gösswein SS, Rump A, et al. Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Eur J Med Genet, 2020, 63(10): 104019.
18. Zou W, Cheng L, Lu S, et al. A de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS. Ophthalmic Genet, 2020, 41(1): 88-89.
19. Hobbs MM, Wolters WC, Rayapati AO. Bosch-boonstra-schaaf optic atrophy syndrome presenting as new-onset psychosis in a 32-year-old man: a case report and literature review. J Psychiatr Pract, 2020, 26(1): 58-62.
20. Kocaaga A, Yimenicioglu S, Gürsoy HH. Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. Indian J Ophthalmol, 2022, 70(7): 2762-2764.
21. Gazdagh G, Mawby R, Self JE, et al. Deciphering developmental disorders study: a severe case of bosch-boonstra-schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene. Am J Med Genet A, 2022, 188(3): 900-906.
22. Kingrey B, Phornphutkul C, Chen W. Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child. J AAPOS, 2021, 25(5): 314-316.
23. 戈文蓉, 万林, 杨光. Boonsta-Bosch-Schaff视神经萎缩综合征并IESS1例报告并文献复习. 解放军医学杂志, 2020, 45(9): 940-946.
24. Starosta RT, Tarnowski J, Vairo FPE, et al. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: functional evidence for benignity of the ALG6 c. 391T>C (p. Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet, 2020, 63(7): 103941.
25. Billiet B, Amati-Bonneau P, Desquiret-Dumas V, et al. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome. Hum Mutat, 2022, 43(2): 128-142.

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