RESUMEN

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.

Asunto(s)

Secuenciación del Exoma , Genes de Neurofibromatosis 1 , Neurofibromatosis 1 , Neurofibromina 1 , Humanos , Irán , Neurofibromatosis 1/genética , Neurofibromina 1/genética , Femenino , Masculino , Niño , Linaje , Adulto , Mutación Puntual , Mutación , Adolescente , Preescolar , Adulto Joven , Análisis Mutacional de ADN , Eliminación de Secuencia