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.
Keywords: NF2 gene; Neurofibromatosis type 2; clinical manifestations.