PreprintArticleVersion 1Preserved in Portico This version is not peer-reviewed
The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review
Version 1
: Received: 20 February 2024 / Approved: 20 February 2024 / Online: 20 February 2024 (11:58:13 CET)
Version 2
: Received: 11 April 2024 / Approved: 12 April 2024 / Online: 12 April 2024 (14:32:30 CEST)
How to cite:
Jurca, A.; Petchesi, C.D.; Jurca, M.C.; Atasie, D.; Bembea, D.; Jurca, A.D. The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review. Preprints2024, 2024021140. https://doi.org/10.20944/preprints202402.1140.v1
Jurca, A.; Petchesi, C.D.; Jurca, M.C.; Atasie, D.; Bembea, D.; Jurca, A.D. The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review. Preprints 2024, 2024021140. https://doi.org/10.20944/preprints202402.1140.v1
Jurca, A.; Petchesi, C.D.; Jurca, M.C.; Atasie, D.; Bembea, D.; Jurca, A.D. The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review. Preprints2024, 2024021140. https://doi.org/10.20944/preprints202402.1140.v1
APA Style
Jurca, A., Petchesi, C.D., Jurca, M.C., Atasie, D., Bembea, D., & Jurca, A.D. (2024). The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review. Preprints. https://doi.org/10.20944/preprints202402.1140.v1
Chicago/Turabian Style
Jurca, A., Dan Bembea and Alexandru Daniel Jurca. 2024 "The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review" Preprints. https://doi.org/10.20944/preprints202402.1140.v1
Abstract
Background and Objectives Neurofibromatosis 1 (NF1 MIM # 162200), also known as von Recklinghausen disease, is among the most common autosomal dominantly transmitted disorders characterized mainly by neurocutaneous manifestations such as café au lait spots, intertriginous freckling, various types of neurofibromas (cutaneous neurofibromas or plexiform tumors), neurological manifestations, and bone abnormalities. It occurs with an incidence of 1:3000–1:4000 cases. Cone-rod dystrophies belong to the large group of retinal dystrophies, a highly heterogeneous group of disorders clinically manifested mainly by damage to cone and rod cells and have a broad spectrum of clinical manifestations. A large number of genes are involved in their etiology, with more than 100 currently identified, including the CRX gene responsible for the autosomal dominant form of cone-rod dystrophy (ad CORD). Materials and Methods: The authors present an intriguing case of a patient diagnosed with Neurofibromatosis type 1 (NF1) as an infant, along with ocular involvement (myopia and astigmatism onset at age 15), which yielded a surprising molecular testing result. Results: Molecular DNA analysis identified a rare occurrence of two mutational variants, including a pathogenic variant in the NF1 gene, c.3871-2A, and a likely pathogenic variant in the CRX gene c.119G>A. Conclusions: The authors present this case to highlight the surprises offered by molecular testing in a condition where the diagnosis is usually made based on clinical criteria, thus providing patients with competent genetic advice.
Keywords
neurofibromatosis type 1; cone-rod dystrophy; molecular diagnosis
Subject
Medicine and Pharmacology, Other
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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