Mutation analysis in 5 families with mild phenotypes of neurofibromatosis type 1
- VernacularTitle:表型温和的1型神经纤维瘤病：5个家系基因突变分析
- Author:
Ying ZHU
1
;
Yunyi GUO
;
Danlu ZHANG
;
Birong GUO
;
Zhonghui SUN
Author Information
- Keywords: Neurofibromatosis 1; DNA mutational analysis; Phenotype
- From: Chinese Journal of Dermatology 2022;55(6):519-522
- CountryChina
- Language:Chinese
- Abstract: Objective:To detect gene mutations in patients with mild phenotypes of neurofibromatosis type 1 (NF1) .Methods:From June 2017 to June 2020, 5 probands with mild phenotypes of NF1 only involving the skin and their family members were collected from Department of Dermatology, Fengxian Institute of Dermatosis Prevention and Treatment in Shanghai. Pedigree investigation was performed to evaluate the clinical phenotypes of NF1. The second-generation targeted gene sequencing combined with Sanger sequencing was performed to detect and verify pathogenic mutations.Results:All the 5 probands presented with only skin lesions, including café-au-lait spots, freckles, neurofibromas, but no other systemic involvement. A total of 5 mutations were identified in different exons of the NF1 gene in the 5 families, including 1 large-fragment deletion mutation (hg38: chr17:31327199-31335928 del 8 730 bp) , 1 splicing mutation (C.7970+1G>T) , 1 insertion mutation (C.3011_3012insTATG, p.N1004fs*) , 1 deletion mutation (C.1754_1757delTAAC, p.T586Vfs*18) , and 1 nonsense mutation (c.C503G, p.S168X) , and the first 3 above mentioned mutations were previously unreported novel mutations.Conclusion:Five mutations were identified in the 5 families with mild phenotypes of NF1, including 3 novel mutations, which expand the mutational spectrum of NF1.
