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Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1216-1219, 2021.
Article
de Chinois
| WPRIM
| ID: wpr-922027
RÉSUMÉ
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1).@*METHODS@#Target capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents.@*RESULTS@#The proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The same variant was not found in his mother and 200 healthy controls.@*CONCLUSION@#The heterozygous nonsense variant of c.2511G>A (p.trp837x) of the NF1 gene probably underlay the pathogenesis of NF1 in this pedigree.