Bioethical aspects in type I neurofibromatosis

Codruța Diana Petchesi,Marius Bembea,Gabriela Ciavoi,Claudia Jurca,Romana Vulturar

doi:10.37897/rjp.2021.3.1

Abstract

Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are de novo cases. The clinical manifestations are multisystemic and are progressively installed, presenting inter- and intra-familial variability of clinical expression. The hereditary nature, impaired quality of life and lethal potential identify numerous and various ethical dilemmas in the diagnosis, monitoring and treatment of neurofibromatosis type 1. Variable expressiveness and multisystemic clinical manifestations determine the unpredictable evolutionary character, associating bio-ethical dilemmas necessary to be managed in the clinical context of the disease. As a clinical applicability, we conclude that some of these problems could be avoided by informing and educating affected families about the disease, by increasing confidence in specialized services and by using molecular techniques in order to know as accurately as possible the genotype-phenotype correlation.

Highlights

Neurofibromatosis type I (NF1 or peripheral type), MIM # 162200 [1], is the most common form of neurofibromatosis (NF), being caused by abnormalities of the neurofibromin gene (NF1 gene) located on chromosome 17 (17q11.2)
The NF1 gene regulates the production of neurofibromin, a protein involved in the regulation of cell growth
Most gene mutations will generate the production of a dysfunctional protein, while large deletions will cause its absence

Summary

Introduction

Neurofibromatosis type I (NF1 or peripheral type), MIM # 162200 [1], is the most common form of neurofibromatosis (NF), being caused by abnormalities of the neurofibromin gene (NF1 gene) located on chromosome 17 (17q11.2). The only child in the family, was suspected from birth for the diagnosis of NF, because he had multiple café-au-lait spots and his mother was diagnosed from childhood with NF, a common form. 2. Is Maria entitled to blame her mother for not trying to prevent the disease through prenatal diagnosis and prenatal genetic testing, as the family history was known?

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Conclusion