Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

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dc.authoridGunduz, Ozgur/0000-0003-1021-5219
dc.authoridDURAK, Murat/0000-0002-3637-4587
dc.contributor.authorKocakap, Sayin D. B.
dc.contributor.authorGunduz, O.
dc.contributor.authorOzer, L.
dc.contributor.authorDurak, M.
dc.date.accessioned2025-01-21T16:36:29Z
dc.date.available2025-01-21T16:36:29Z
dc.date.issued2021
dc.departmentKırıkkale Üniversitesi
dc.description.abstractNeurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de novo NF1 mutations. Neurofibromatosis type 1 has an incidence rate of 1/2600-3000 individuals, making it a major public health problem. The product of the NF1 gene, the neurofibromin protein, is known to play a critical role in cellular differentiation and in tumor suppression. Due to widespread expression of neurofibromin in numerous tissues, particularly in cutaneous and nervous systems, NF1 mutations cause a wide variety of clinical symptoms, including cutaneous and ocular lesions such as cafe au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, choroidal freckling and internal tumors. In this article, we report the cases of two siblings with NF1, a 21-year-old male and his 24-year-old sister, who have the same c.5392C>T mutation on the NF1 gene (p.Gln1798 Ter). Cafe au lait macules and freckling were the prominent clinical features in both siblings. However, a plexiform neurofibroma was also observed on the left arm of the sister, which is known to carry potential risk for malignant transformation. Although the mutation was previously described once, to the best of our knowledge, no case report has been published since then.
dc.identifier.doi10.2478/bjmg-2021-0021
dc.identifier.endpage102
dc.identifier.issn1311-0160
dc.identifier.issue2
dc.identifier.pmid36249525
dc.identifier.startpage99
dc.identifier.urihttps://doi.org/10.2478/bjmg-2021-0021
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24304
dc.identifier.volume24
dc.identifier.wosWOS:000805907100013
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSciendo
dc.relation.ispartofBalkan Journal of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectFamilial; Mutation; Neurofibromatosis type 1 (NF1)
dc.titleCase Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
dc.typeArticle

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