Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
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DOI：
10.1136/jmg.2003.016154
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发表时间：
2004-05-01
影响因子：
4
通讯作者：
Wakamatsu, N
中科院分区：
文献类型：
--
作者：
Ishihara, N;Yamada, K;Wakamatsu, N
方法临床研究根据人体材料和受试者的机构指南获得所有参与者的知情同意书。通过审查病历和体格检查进行评价，包括精神发育迟滞、发育迟缓、小头畸形、面部畸形、癫痫和先天性巨结肠症的结果，以及CT和/或MRI脑部图像。参与本研究的受试者被命名为S1至S42。表中未列出的受试者，如S12，没有被鉴定为ZFHX 1B异常，或该患者的分析尚未完成。ZFHX 1B的突变分析为了筛选突变，通过PCR 14扩增来自患者和正常对照的包括ZFHX 1B的每个外显子的DNA片段，并进行直接测序分析。为了确认在患者中检测到的突变，将PCR产物亚克隆到pGEM-T Easy（Promega）中并测序。
METHODS Clinical studies Informed consent was obtained from all participants in accordance with institutional guidelines for human materials and subjects. Evaluation was by review of medical records and physical examination, including findings for mental retardation, developmental delay, microcephaly, facial dysmorphism, epilepsy, and Hirschsprung disease, as well as CT and/or MRI brain images. The subjects participating in this study were named S1 to S42. Subjects who are not listed in the tables, such as S12, have not been identified with an abnormality in ZFHX1B, or the analysis of that patient has not yet been completed.Mutational analysis of ZFHX1B To screen for mutations, DNA fragments including each exon of ZFHX1B from patients and normal controls were amplified by PCR14 and subjected to direct sequencing analysis. 21 To confirm mutations detected in patients, PCR products were subcloned into pGEM-T Easy (Promega) and sequenced.