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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.10
- 수록면
- 703 - 710 (8page)
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초록· 키워드
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Background and Objectives Neurofibromatosis type 2 (NF2) is a rare autosomal dominantdisorder characterized as bilateral vestibular schwannoma (VS), various brain and spinal tumors.
This study is aimed to investigate the relationship between the genotypes and phenotypesof NF2 found in the Korean population.
Subjects and Method We retrospectively reviewed 11 patients who were diagnosed withNF2 and observed them for more than a year. NF2 gene mutations were detected using Sangersequencing and multiplex ligation-dependent probe amplification (MLPA). The mutationswere classified into tissue mosaicism, classic, and severe genotypes according to the UK NF2genetic severity score. Tumor load was assessed by reviewing MR images and audiologicalfindings were analyzed.
Results We identified 7 cases (63.6%) of mutations from 11 patients who were diagnosedwith NF2. While three patients showed classic and four showed severe genotypes, four patientswere presumed as tissue mosaicism. The patients with severe genotypes didn’t show more severeclinical manifestations in terms of tumor load and hearing. Four patients with tissue mosaicismwere detected in the older age group than those with mutation. Of the five patients whohad serviceable bilateral hearing at the initial diagnosis, all maintained their serviceable hearingduring the follow-up.
Conclusion Our results, which showed that the clinical manifestations of NF2 found in theKorean population have no correlation with the genotype findings, are not in agreement withprevious studies. However, further studies with larger sample sizes are needed to give moreappropriate counsel.
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참고문헌 (11)
참고문헌 신청
Evans DG / 2009 / Neurofibromatosis type 2(NF2) : A clinical and molecular review / Orphanet J Rare Dis 4:16
Asthagiri AR / 2009 / Neurofibromatosis type 2 / Lancet 373(9679):1974~1986
Ardern-Holmes S / 2017 / Neurofibromatosis type 2 / J Child Neurol 32(1):9~22
Halliday D / 2017 / Genetic Severity Score predicts clinical phenotype in NF2 / J Med Genet 54(10):657~664
Aboukais R / 2013 / Prognostic value and management of spinal tumors in neurofibromatosis type 2 patients / Acta Neurochir(Wien) 155(5):771~777
Asthagiri AR / 2009 / Neurofibromatosis type 2 / Lancet 373(9679):1974~1986
Ardern-Holmes S / 2017 / Neurofibromatosis type 2 / J Child Neurol 32(1):9~22
Halliday D / 2017 / Genetic Severity Score predicts clinical phenotype in NF2 / J Med Genet 54(10):657~664
Aboukais R / 2013 / Prognostic value and management of spinal tumors in neurofibromatosis type 2 patients / Acta Neurochir(Wien) 155(5):771~777
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