Please wait a minute...
Clinical and Experimental Obstetrics & Gynecology  2018, Vol. 45 Issue (6): 924-929    DOI: 10.12891/ceog4078.2018
Case Report Previous articles | Next articles
A novel mutation in the mutations in the methyl-CpG-binding protein 2 (MECP2) gene in a Chinese patient with typical Rett syndrome and subsequent prenatal diagnosis
D.Y. Ma1, †, G. Liu1, †, C.Y. Luo1, A. Liu1, J.J. Zhang1, P. Hu1, J. Cheng1, Y.G. Wang1, T. Jiang1, J.F. Xu1
1 State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing, China
Download:  PDF
Export:  BibTeX | EndNote (RIS)      
Abstract  
Rett syndrome (RTT), which is a progressive neurodevelopmental disorder characterized by early neurological regression, severely affects cognitive function, as well as motor and language skills. Mutations in the methyl-CpG-binding protein 2 (MECP2) gene have been found in most patients with typical RTT. In this study, a female patient with severe symptoms was diagnosed as typical RTT according to the revised diagnostic criteria. Genetic analysis reveals that the child had a novel frameshift mutation, c.368delA (p.Tyr123PhefsX2), in exon 3 of the MECP2 gene. After genetic counseling, the parents were referred to the present clinic for prenatal diagnosis during their second pregnancy. The mutation was not detected in this fetus and was predicted to be unaffected by RTT. Here, the authors report a novel mutation in the MECP2 gene of a patient with typical RTT, which provides accurate information for genetic counseling and prenatal diagnosis.
Key words:  Rett syndrome      MECP2      Novel mutation      Prenatal diagnosis     
Published:  10 December 2018     
*Corresponding Author(s):  ZHENGFENG XU     E-mail:  cnzhengfengxu@126.com
About author:  † These authors contributed equally to this work.

Cite this article: 

D.Y. Ma, G. Liu, C.Y. Luo, A. Liu, J.J. Zhang, P. Hu, J. Cheng, Y.G. Wang, T. Jiang, J.F. Xu. A novel mutation in the mutations in the methyl-CpG-binding protein 2 (MECP2) gene in a Chinese patient with typical Rett syndrome and subsequent prenatal diagnosis. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(6): 924-929.

URL: 

https://ceog.imrpress.com/EN/10.12891/ceog4078.2018     OR     https://ceog.imrpress.com/EN/Y2018/V45/I6/924

[1] B.F. Zhou, C.X. Duan, D.L. Tang. Methylmalonic acidemia in prenatal diagnosis[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(4): 617-619.
[2] D. Lu, D. Cao, Q. Zhao, X. Chen. Prenatal diagnosis and genetic counseling of mosaicism for chromosome t (7; 14) with a favorable outcome[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(3): 427-428.
[3] W.B. Wang, Q. Wu, Y. Zhou, X. Zhong, Y. Ge, J. Zhang. A 10-year retrospective study on prenatal cytogenetic analyses[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(2): 248-252.
[4] Q.C. Wu, W.B. Wang, L. Sun, Y.S. Xu, X.J. Xie, X.M. Ma, Z.Y. Su. Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I[J]. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(1): 7-11.
[5] G. Szabó, J. Rigó Jr.. Prenatal ultrasound diagnosis of abdominal pregnancy of ovarian origin[J]. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(6): 977-979.
[6] W. Homola, M. Zimmer. Safety of amniocentesis in normal pregnancies and pregnancies considered high-risk due to fetal genetic anomalies – an observational study[J]. Clinical and Experimental Obstetrics & Gynecology, 2019, 46(3): 403-407.
[7] S. G. Erzincan, N. C. Sayin, C. Inan, M. A. Yuce, F. G. Varol, S. Basaran. Cell-free DNA testing: is it reliable? A case report[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(6): 939-941.
[8] Bo Wang, Dan Lu, Zuliang Shi, Jian Ke, Qi Zhao, Hongjun Li. Prenatal diagnosis of a complex chromosomal rearrangement involving five chromosomes[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(5): 797-799.
[9] Sun Young Jung, Yong Teak Oh, Suk Young Kim. Predict pregnancy outcomes of prenatal megaureter by prenatal ultrasonography[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(4): 544-548.
[10] G. Capobianco, G. Virdis, C. Cherchi, A. Gulotta, P.L. Cherchi, S. Dessole. Diagnosis and management of fetal omphalocele: a case report[J]. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(1): 129-131.
[11] J. Han, X. Liu, Y. Zhao, Y. Zhang, L. Sun, X. Gu, X. Yang, Y. Li, Y. He. Prenatal diagnosis of absent pulmonary valve syndrome: results of a single-center experience in Beijing[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(6): 834-838.
[12] L.J. Kong, L. Fan, G.H. Li, W.Y. Zhang. Prevalence of congenital malformations during pregnancy in China: screening by ultrasound examination[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(5): 772-776.
[13] L. Zhen, A.H. Wu, C. Liao, D.Z. Li. Prediction of homozygous α-thalassemia-1 by nuchal translucency measurement at first trimester: is it possible?[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(4): 545-547.
[14] K.H. Gou, X.C. Gao, L. Wang, A.Q. Yan, L. Xue, S. Han, L. Yang. Risk factors for perinatal birth defects in Zhangye: a long-term hospital-based study[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(4): 581-583.
[15] Yingjun Xie, Xiaofang Sun. Chromosomal microarray analysis in prenatal diagnosis[J]. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(2): 177-179.
No Suggested Reading articles found!