Abstract
Background
Neurofibromatosis type 2 (NF2) is an autosomal dominantly inherited disease with slow, yet potentially life-threatening progression.
Objective
We describe the clinical manifestations and genetic profile of a family with NF2.
Methods
We enrolled a 16-member family with NF2. We collected clinical examinations and imaging information. Genetic analysis was conducted through multiplex ligation-dependent probe amplification (MLPA). The SALSA MLPA probemix P044-B2 NF2 kit was used to detect genetic variations in genomic upstream and 17 exons of the NF2 gene.
Results
The most common clinical manifestation was hearing impairment (37.5%), followed by tinnitus (18.8%). Four participants had vestibular schwannoma: 2 were bilateral and 2 unilateral, and tumor size ranged from 86.3 to 5064 mm3. A weak correlation between hearing impairment and tumor size was observed. Genetic analysis revealed that the DNA dosages of exons 9, 10, and 11 of the NF2 gene in 3 diseased family members (participants #3, #5, and #11) were higher than those in the controls. However, we could not detect an indicative abnormal DNA dosage of NF2 in participant #6 despite such a dosage being considered a diagnostic indicator of NF2.
Conclusions
Hearing impairment was the most common clinical manifestation in this family. The NF2 gene is a gene of interest that warrants familial genetic screening.
Chinese Abstract
背景:II型神经纤维瘤病 (NF2) 是一种常染色体显性遗传疾病, 具有缓慢、但可能危及生命的病程。
目的:我们描述了一个 NF2 家庭的临床表现和遗传特征。
方法:我们招募了一个 16 人的 NF2 家庭, 收集了临床检查和影像信息。通过多重连接依赖性探针扩增进行遗传分析(MLPA)。 SALSA MLPA 探针组合P044-B2 NF2 试剂盒用于检测基因上游中的遗传变异和NF2基因组的17 个外显子。
结果:最常见的临床表现是听力障碍(37.5%), 其次是耳鸣(18.8%)。四名参与者患有前庭神经鞘瘤:2 名双侧和 2 名单侧, 肿瘤大小从 86.3 到 5064 mm3。 观察到听力障碍与肿瘤大小之间的弱相关性。遗传分析表明, 3个患病家庭成员(参与者#3、#5和#11)的NF2 基因的外显子 9、10 和 11 的 DNA 剂量高于对照组。然而, 我们无法检测到参与者Q2 #6的NF2 指示性异常 DNA 剂量。
结论:听力障碍是该家族最常见的临床表现。 NF2基因引起我们的注意, 值得进行家族遗传筛查。
Disclosure statement
No potential conflict of interest was reported by the author(s). The article has not been published previously and is not being considered for publication in other journals.