Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2. (2nd January 2022)

• Record Type: Journal Article
• Authors: Wang, Victoria Y.; Liu, Te-Yi; Fang, Te-Yung; Chen, Ya-Hui; Huang, Chi-Jung; Wang, Pa-Chun
• Is Part Of: Acta oto-laryngologica. Volume 142:Number 1(2022)
• Page Start: 36
• Page End: 42
• Publication Date: 2022-01-02
• Subjects: Neurofibromatosis type 2 -- clinical manifestations -- NF2 gene; Otolaryngology -- Periodicals; Ear -- Diseases -- Periodicals; Throat -- Diseases -- Periodicals; Otolaryngology -- Electronic Resources; Otorhinolaryngologic Diseases; 617.8
• DOI: 10.1080/00016489.2021.2012594
• Languages: English
• ISSNs: 0001-6489

Abstract

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 mm 3 . 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.