Orvosi hetilap · 2011
[Molecular genetic diagnosis of neurofibromatosis type I].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Polgár Noémi, Komlósi Katalin, Hadzsiev Kinga, Illés Tamás, Melegh Béla
Аннотация
UNLABELLED: Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development. Pathogenic variations of neurofibromin-1 arise as de novo mutations in approx. 50% of the cases.
AIMS: Molecular genetic testing of neurofibromin-1 gene has been performed in our department since 2008; the following report summarizes our experiences.
METHODS: 40 patients, presenting symptoms of type 1 neurofibromatosis, were screened by sequencing or multiplex ligation-dependent probe amplification.
RESULTS: Pathogenic alterations were identified in 31 cases, 8 patients presented novel mutations. In 8 affected, no mutations were detected by sequencing; one of these patients had a deletion affecting the entire gene.
CONCLUSIONS: Sequencing of the neurofibromin-1 gene and screening for rearrangements are useful in identifying pathogenic alterations in most of the cases.
AIMS: Molecular genetic testing of neurofibromin-1 gene has been performed in our department since 2008; the following report summarizes our experiences.
METHODS: 40 patients, presenting symptoms of type 1 neurofibromatosis, were screened by sequencing or multiplex ligation-dependent probe amplification.
RESULTS: Pathogenic alterations were identified in 31 cases, 8 patients presented novel mutations. In 8 affected, no mutations were detected by sequencing; one of these patients had a deletion affecting the entire gene.
CONCLUSIONS: Sequencing of the neurofibromin-1 gene and screening for rearrangements are useful in identifying pathogenic alterations in most of the cases.