Xq28區域新基因突變導致的智力殘疾/共濟失調癲癇一例并文獻復習_Journal of Epilepsy

Authors：

姜燕 ,  孔慶霞

濟寧醫學院臨床醫學院（濟寧 272067）;

Corresponding?author：

孔慶霞, Email: kxdqy8@sohu.com

Keywords：

DOI：

10.7507/2096-0247.202207011

Video：

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Citation： 姜燕, 孔慶霞. Xq28區域新基因突變導致的智力殘疾/共濟失調癲癇一例并文獻復習. Journal of Epilepsy, 2023, 9(1): 78-81. doi: 10.7507/2096-0247.202207011 Copy

1.	El-Hattab A, Schaaf C, Fang P, et al. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Medical Genetics, 2015, 16(1): 12.
2.	Ward D, Buckley B, Leon E, et al. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype. Am J Med Genet A, 2018, 176(3): 551-559.
3.	Yon K, Park J, Kim S, et al. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. BMC Med Genet, 2017, 18(1): 30.
4.	Sinibaldi L, Parisi V, Lanciotti S, et al. Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clin Genet, 2019, 96(3): 246-253.
5.	Miguet M, Faivre L, Amiel J, et al. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. J Med Genet, 2018, 55(6): 359-371.
6.	Ha K, Shen Y, Graves T, et al. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability. Mol Cytogenet, 2016, 9: 74.
7.	Ballout R, Dickerson C, Wick M, et al. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat, 2020, 41(7): 1238-1249.
8.	El Chehadeh S, Faivre L, Mosca-Boidron A, et al. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Am J Med Genet A, 2016, 170A(1): 116-129.
9.	Marafi D, Suter B, Schultz R, et al. Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome. Neurology, 2019, 92(2): e108-e114.
10.	El Chehadeh S, Touraine R, Prieur F, et al. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? Clin Genet, 2017, 91(4): 576-588.
11.	Ballout R, El-Hattab A, Schaaf C, et al. Xq28 Duplication syndrome, int22h1/int22h2 mediated. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2016 Mar 10 [updated 2021 Feb 25]. .
12.	Lin D, Chuang T, Chiang M, et al. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. Gene, 2014, 533(1): 78-85.
13.	Li X, Xie H, Chen Q, et al. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. BMC Med Genet, 2017, 18(1): 131.
14.	Sandweiss A, Brandt V, Zoghbi H. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. The Lancet Neurology, 2020, 19(8): 689-698.
15.	Gulmez K, Brito D, Oliveira A. MeCP2: A Critical regulator of chromatin in neurodevelopment and adult brain function. Int J Mol Sci, 2019, 20(18): 4577.
16.	Lugtenberg D, Kleefstra T, Oudakker A, et al. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet, 2009, 17(4): 444-453.
17.	Zhang Q, Zhao Y, Yang Y, et al. MECP2 duplication syndrome in a Chinese family. BMC Med Genet, 2015, 16: 112.
18.	van Baelen A, Verhoustraeten L, Kenis S, et al. Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: a case series and review of the literature. Am J Med Genet A, 2020, 182(10): 2437-2441.
19.	章清萍, 包新華. MECP2重復綜合征研究進展. 中華醫學遺傳學雜志, 2015, 32(3): 426-429.
20.	Honda S, Hayashi S, Nakane T, et al. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. Am J Med Genet A, 2012, 158A(6): 1292-1303.
21.	Tsuji-Hosokawa A, Matsuda N, Kurosawa K, et al. A case of mecp2 duplication syndrome with gonadotropin-dependent precocious puberty. Horm Res Paediatr, 2017, 87(4): 271-276.
22.	Takeguchi R, Takahashi S, Akaba Y, et al. Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan. J Neurol Sci, 2021, 422: 117321.
23.	Vignoli A, Borgatti R, Peron A, et al. Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. Epilepsia, 2012, 53(7): 1146-1155.
24.	Fernandez R, Nunez-Torres R, Gonzalez-Meneses A, et al. Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. BMC Med Genet, 2010, 11: 137.
25.	李曉青, 游艷琴, 欒秀麗, 等. Xq28重復綜合征1例報道. 解放軍醫學院學報, 2017, 38(1): 96-97.

1. El-Hattab A, Schaaf C, Fang P, et al. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Medical Genetics, 2015, 16(1): 12.
2. Ward D, Buckley B, Leon E, et al. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype. Am J Med Genet A, 2018, 176(3): 551-559.
3. Yon K, Park J, Kim S, et al. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. BMC Med Genet, 2017, 18(1): 30.
4. Sinibaldi L, Parisi V, Lanciotti S, et al. Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clin Genet, 2019, 96(3): 246-253.
5. Miguet M, Faivre L, Amiel J, et al. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. J Med Genet, 2018, 55(6): 359-371.
6. Ha K, Shen Y, Graves T, et al. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability. Mol Cytogenet, 2016, 9: 74.
7. Ballout R, Dickerson C, Wick M, et al. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat, 2020, 41(7): 1238-1249.
8. El Chehadeh S, Faivre L, Mosca-Boidron A, et al. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Am J Med Genet A, 2016, 170A(1): 116-129.
9. Marafi D, Suter B, Schultz R, et al. Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome. Neurology, 2019, 92(2): e108-e114.
10. El Chehadeh S, Touraine R, Prieur F, et al. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? Clin Genet, 2017, 91(4): 576-588.
11. Ballout R, El-Hattab A, Schaaf C, et al. Xq28 Duplication syndrome, int22h1/int22h2 mediated. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2016 Mar 10 [updated 2021 Feb 25]. .
12. Lin D, Chuang T, Chiang M, et al. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. Gene, 2014, 533(1): 78-85.
13. Li X, Xie H, Chen Q, et al. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. BMC Med Genet, 2017, 18(1): 131.
14. Sandweiss A, Brandt V, Zoghbi H. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. The Lancet Neurology, 2020, 19(8): 689-698.
15. Gulmez K, Brito D, Oliveira A. MeCP2: A Critical regulator of chromatin in neurodevelopment and adult brain function. Int J Mol Sci, 2019, 20(18): 4577.
16. Lugtenberg D, Kleefstra T, Oudakker A, et al. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet, 2009, 17(4): 444-453.
17. Zhang Q, Zhao Y, Yang Y, et al. MECP2 duplication syndrome in a Chinese family. BMC Med Genet, 2015, 16: 112.
18. van Baelen A, Verhoustraeten L, Kenis S, et al. Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: a case series and review of the literature. Am J Med Genet A, 2020, 182(10): 2437-2441.
19. 章清萍, 包新華. MECP2重復綜合征研究進展. 中華醫學遺傳學雜志, 2015, 32(3): 426-429.
20. Honda S, Hayashi S, Nakane T, et al. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. Am J Med Genet A, 2012, 158A(6): 1292-1303.
21. Tsuji-Hosokawa A, Matsuda N, Kurosawa K, et al. A case of mecp2 duplication syndrome with gonadotropin-dependent precocious puberty. Horm Res Paediatr, 2017, 87(4): 271-276.
22. Takeguchi R, Takahashi S, Akaba Y, et al. Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan. J Neurol Sci, 2021, 422: 117321.
23. Vignoli A, Borgatti R, Peron A, et al. Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. Epilepsia, 2012, 53(7): 1146-1155.
24. Fernandez R, Nunez-Torres R, Gonzalez-Meneses A, et al. Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. BMC Med Genet, 2010, 11: 137.
25. 李曉青, 游艷琴, 欒秀麗, 等. Xq28重復綜合征1例報道. 解放軍醫學院學報, 2017, 38(1): 96-97.

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Journal of Epilepsy

Xq28區域新基因突變導致的智力殘疾/共濟失調癲癇一例并文獻復習

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