Az 1-es típusú neurofibromatosis molekuláris genetikai diagnosztikája

Translated title of the contribution: Molecular genetic diagnosis of neurofi bromatosis type I

Noémi Polgár, K. Komlósi, Kinga Hadzsiev, Tamás Illés, B. Melegh

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageHungarian
Pages (from-to)415-419
Number of pages5
JournalOrvosi Hetilap
Volume152
Issue number11
DOIs
Publication statusPublished - Mar 1 2011

Fingerprint

Neurofibromin 1
Molecular Biology
Neurofibroma
Mutation
Neurofibromatosis 1
Genes
Hyperpigmentation
Hamartoma
Groin
Gene Rearrangement
Multiplex Polymerase Chain Reaction
Genetic Testing
Iris
Phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Az 1-es típusú neurofibromatosis molekuláris genetikai diagnosztikája. / Polgár, Noémi; Komlósi, K.; Hadzsiev, Kinga; Illés, Tamás; Melegh, B.

In: Orvosi Hetilap, Vol. 152, No. 11, 01.03.2011, p. 415-419.

Research output: Contribution to journalArticle

Polgár, Noémi ; Komlósi, K. ; Hadzsiev, Kinga ; Illés, Tamás ; Melegh, B. / Az 1-es típusú neurofibromatosis molekuláris genetikai diagnosztikája. In: Orvosi Hetilap. 2011 ; Vol. 152, No. 11. pp. 415-419.
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