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学科主题: 临床医学
题名:
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients
作者: Zhao, Ying1; Zhang, Xiaoying1; Bao, Xinhua1; Zhang, Qingping1; Zhang, Jingjing1; Cao, Guangna1; Zhang, Jie2; Li, Jiarui2; Wei, Liping2; Pan, Hong1; Wu, Xiru1
关键词: CDKL5 mutations ; Early-onset epileptic encephalopathy ; X chromosome inactivation
刊名: BMC MEDICAL GENETICS
发表日期: 2014-02-25
DOI: 10.1186/1471-2350-15-24
卷: 15
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: ONSET INTRACTABLE EPILEPSY ; X-CHROMOSOME INACTIVATION ; CDKL5 MUTATIONS ; RETT-SYNDROME ; INFANTILE SPASMS ; MENTAL-RETARDATION ; SEVERE ENCEPHALOPATHY ; FEMALE-PATIENTS ; BOYS ; SEIZURES
英文摘要:

Background: Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM-003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome). In order to clarify the CDKL5 genotype-phenotype correlations in Chinese patients, CDKL5 mutational screening in cases with early-onset epileptic encephalopathies and RTT without MECP2 mutation were performed.

Methods: The detailed clinical information including clinical manifestation, electroencephalogram (EEG), magnetic resonance imaging (MRI), blood, urine amino acid and organic acid screening of 102 Chinese patients with early-onset epileptic encephalopathies and RTT were collected. CDKL5 gene mutations were analyzed by PCR, direct sequencing and multiplex ligation-dependent probe amplification (MLPA). The patterns of X-chromosome inactivation (XCI) were studied in the female patients with CDKL5 gene mutation.

Results: De novo CDKL5 gene mutations were found in ten patients including one missense mutation (c.533G > A, p. R178Q) which had been reported, two splicing mutations (ISV6 + 1A > G, ISV13 + 1A > G), three micro-deletions ( c.1111delC, c. 2360delA, c. 234delA), two insertions (c. 1791 ins G, c. 891_892 ins TT in a pair of twins) and one nonsense mutation (c. 1375C > T, p. Q459X). Out of ten patients, 7 of 9 females with Hanefeld variants of RTT and the remaining 2 females with early onset epileptic encephalopathy, were detected while only one male with infantile spasms was detected. The common features of all female patients with CDKL5 gene mutations included refractory seizures starting before 4 months of age, severe psychomotor retardation, Rett-like features such as hand stereotypies, deceleration of head growth after birth and poor prognosis. In contrast, the only one male patient with CDKL5 mutation showed no obvious Rett-like features as females in our cohort. The X-chromosome inactivation patterns of all the female patients were random.

Conclusions: Mutations in CDKL5 gene are responsible for 7 with Hanefeld variants of RTT and 2 with early-onset epileptic encephalopathy in 71 girls as well as for 1 infantile spasms in 31 males. There are some differences in the phenotypes among genders with CDKL5 gene mutations and CDKL5 gene mutation analysis should be considered in both genders.

语种: 英语
所属项目编号: Z121107001012049 ; H81070911
项目资助者: Grants of Capital Clinical Characteristic Application Research ; Beijing Science &amp ; Technology Committee ; Peking University 985 Clinical Hospital Cooperation Project ; National Natural Science Foundation of China
WOS记录号: WOS:000334534100001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51629
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Peking Univ, Natl Inst Biol Sci, Beijing 100871, Peoples R China

Recommended Citation:
Zhao, Ying,Zhang, Xiaoying,Bao, Xinhua,et al. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients[J]. BMC MEDICAL GENETICS,2014,15.
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