Xq28区域新基因突变导致的智力残疾/共济失调癫痫一例并文献复习_Journal of Epilepsy

Authors：

姜燕 ,  孔庆霞

济宁医学院临床医学院（济宁 272067）;

Corresponding author：

孔庆霞, Email: kxdqy8@sohu.com

Keywords：

DOI：

10.7507/2096-0247.202207011

Video：

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Citation： 姜燕, 孔庆霞. Xq28区域新基因突变导致的智力残疾/共济失调癫痫一例并文献复习. 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, 包新华. MECP2重复综合征研究进展. 中华医学遗传学杂志, 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.	李晓青, 游艳琴, 栾秀丽, 等. Xq28重复综合征1例报道. 解放军医学院学报, 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, 包新华. MECP2重复综合征研究进展. 中华医学遗传学杂志, 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. 李晓青, 游艳琴, 栾秀丽, 等. Xq28重复综合征1例报道. 解放军医学院学报, 2017, 38(1): 96-97.

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Xq28区域新基因突变导致的智力残疾/共济失调癫痫一例并文献复习

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