A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Neuromolecular Med
; 26(1): 28, 2024 Jul 02.
Article
em En
| MEDLINE
| ID: mdl-38954284
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genes da Neurofibromatose 1
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Neurofibromatose 1
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Neurofibromina 1
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Sequenciamento do Exoma
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Neuromol. med. (Online)
/
Neuromolecular Med
/
Neuromolecular medicine (Online)
Ano de publicação:
2024
Tipo de documento:
Article