SEMA3E mutation in a patient with CHARGE syndrome -: art. no. e94
SEMA3E mutation in a patient with CHARGE syndrome -: art. no. e94
复制标题
DOI：
10.1136/jmg.2003.017640
复制
发表时间：
2004-07-01
影响因子：
4
通讯作者：
Belmont, JW
中科院分区：
文献类型：
--
作者：
Lalani, SR;Safiullah, AM;Belmont, JW
方法研究样本包括72例患者，其中43例具有CHARGE的四个主要标准（缺损、后鼻孔闭锁、特征性耳部异常和颅神经功能障碍）或三大三小标准（生殖器发育不全、发育迟缓、心血管畸形、生长缺陷、口面裂、气管食管瘘，和特征脸）。这组患者用于所有FISH分析、DHPLC和候选基因测序。另外29例临床诊断为CHARGE的患者，由几位经验丰富的畸形学家之一确定，7例也纳入本研究。所有这些患者的缺陷谱以前都有报道。7 Martin等11描述了平衡易位患儿的表型，包括双侧后鼻孔闭锁、半规管缺失、颅神经功能障碍、生殖器发育不全、发育迟缓和生长迟缓。从该患者获得血液样品，并建立淋巴母细胞系。研究方案由贝勒医学院机构审查委员会审查和批准。
METHODSThe study sample includes 72 patients, of whom 43 have either four major criteria for CHARGE (coloboma, choanal atresia, characteristic ear abnormality, and cranial nerve dysfunction) or three major and three minor criteria (genital hypoplasia, developmental delay, cardiovascular malformations, growth deficiency, orofacial cleft, tracheo-oesopageal fistula, and characteristic face) as described by Blake et al. 10 This set of patients was used for all FISH analyses, DHPLC, and candidate gene sequencing. An additional 29 patients with clinical diagnosis of CHARGE, established by one of several experienced dysmorphologists, 7 were also included in this study. The spectrum of defects in all these patients has been reported previously. 7 The phenotype of the child with the balanced translocation has been described by Martin et al 11 and includes bilateral choanal atresia, absence of semicircular canals, cranial nerve dysfunction, genital hypoplasia, developmental delay, and growth retardation. A blood sample was obtained from this patient and lymphoblastoid cell line was established. The research protocol was reviewed and approved by the Baylor College of Medicine Institutional Review Board.