Connective tissue dysplasia in five new patients with NF1 microdeletions:: further expansion of phenotype and review of the literature -: art. no. e8
Connective tissue dysplasia in five new patients with NF1 microdeletions:: further expansion of phenotype and review of the literature -: art. no. e8
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DOI：
10.1136/jmg.2005.034256
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发表时间：
2006-02-01
影响因子：
4
通讯作者：
Babovic-Vuksanovic, D
中科院分区：
文献类型：
--
作者：
Mensink, KA;Ketterling, RP;Babovic-Vuksanovic, D
大约5%的1型神经纤维瘤病（NF1）患者有整个NF1基因的缺失。其表型通常包括早发，大量神经纤维瘤，存在先天性异常，认知缺陷，以及可变的畸形特征和生长异常。结缔组织异常通常不被认为是NF1微缺失综合征的一部分，但在少数患者中报道了二尖瓣脱垂、关节松弛和/或手掌皮肤柔软。我们描述了六名新诊断的NF1微缺失患者的临床发现，其中五人表现为结缔组织异常。我们还对NF1微缺失相关的临床表现进行了文献回顾。我们的报告证实，结缔组织发育不良在NF1微缺失患者中很常见。考虑到潜在的相关心脏表现，超声心动图筛查可能是必要的。尽管已知NF1微缺失的患者数量很多（约150人），但临床表型仍然不完全确定。需要更多关于NF1微缺失患者的报告，包括全面的临床和分子信息，来阐明可能的基因型-表型相关性。
Approximately 5% of patients with neurofibromatosis type 1 (NF1) have deletions of the entire NF1 gene. The phenotype usually includes early onset, large number of neurofibromas, presence of congenital anomalies, cognitive deficiency, and variable dysmorphic features and growth abnormalities. Connective tissue abnormalities are not generally recognised as a part of NF1 microdeletion syndrome, but mitral valve prolapse, joint laxity, and/or soft skin on the palms have been reported in a few patients. We describe clinical findings in six newly diagnosed patients with NF1 microdeletions, five of whom presented with connective tissue abnormalities. A literature review of the clinical findings associated with NF1 microdeletion was also performed. Our report confirms that connective tissue dysplasia is common in patients with NF1 microdeletions. Given the potential for associated cardiac manifestation, screening by echocardiogram may be warranted. Despite the large number (> 150) of patients with known NF1 microdeletions, the clinical phenotype remains incompletely defined. Additional reports of patients with NF1 microdeletions, including comprehensive clinical and molecular information, are needed to elucidate possible genotype - phenotype correlation.