Clinical and cytogenetic assessment of a cohort of Egyptian patients with Neurofibromatosis 1
| Autor: | Maha M. Eid, Ola M. Eid, Ghada Y. El Kamah, Marwa Farid, Ghada M H Abdel-Salam |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Inguinal freckling Neurology medicine.diagnostic_test business.industry Locus (genetics) Karyotype Physical examination medicine.disease Dermatology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis Cohort Genetics medicine Neurofibroma Neurofibromatosis business |
| Zdroj: | Gene Reports. 18:100573 |
| ISSN: | 2452-0144 |
| DOI: | 10.1016/j.genrep.2019.100573 |
| Popis: | Introduction Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by the presence of certain clinical manifestation. The most common clinical features are, hyperpigmented areas, neurofibromas and Lisch nodules of the iris. The diagnosis is usually based on the clinical finding. The NF1 is caused by heterozyous mutations of the NF1 gene. It was suggested that individuals with inherited NF1 microdeletion usually have a more severe phenotype compared with those harboring intragenic mutations. Aim The aim of the study is to evaluate the clinical and cytogenetic findings of NF1 patients referred to the Dermatology and Neurology clinics at NRC. Patients and methods This study included 30 NF1 patients, 7 patients were from 3 families and the others were sporadic cases. All patients were subjected to thorough clinical examination, pedigree construction, various neuro-radiological investigation, and G-Banding and FISH using NF1 probe to detect deletion. Results All patients had the characteristic clinical manifestations including the multiple skin hyperpigmented areas >0.5 cm, axillary and/or inguinal freckling and neurofibroma. Karyotype was normal for all patients but one has 45,XX,rob(13;14)(q10;q10). FISH results showed positive deletion for NF1 locus in 5 patients including two sibs (6y and 4mon), both and their mother have multiple neurofibromas. Conclusion Our patients exhibited the common features for the NF1. All young children below 10 years did not show any neurofibromas lesions. However the neurofibromas lesions were unusually developed early in 3patients, this could be explained by the presence of NF1 deletion that was detected by FISH, which underscores the impact of this deletion on the early development of neurofibromas. |
| Databáze: | OpenAIRE |
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