TY  - JOUR
T1  - Rare Co-occurrence of Two Mutational Variants in NF1: Molecular Testing Reveals Diagnostic Surprises
A1  - Thayne Woycinck Kowalski
A1  - Larissa Brussa Reis
A1  - Tiago Finger Andreis
A1  - Patricia Ashton-Prolla
A1  - Clévia Rosset
JF  - Journal of Medical Sciences and Interdisciplinary Research
JO  - J Med Sci Interdiscip Res
SN  - 3108-4826
Y1  - 2024
VL  - 4
IS  - 2
DO  - 10.51847/H2qQlZTYO7
SP  - 20
EP  - 29
N2  - Neurofibromatosis type 1 (NF1; MIM #162200), commonly called von Recklinghausen disease, is a frequently encountered genetic condition transmitted via autosomal dominant inheritance. It is characterized by a spectrum of neurocutaneous symptoms, such as café-au-lait patches, freckling in skin folds, various types of neurofibroma (including dermal and plexiform), as well as neurological and skeletal complications. The condition affects approximately 1 in every 3,000 to 4,000 people. Separately, cone-rod dystrophies constitute a broad category of retinal disorders that involve degeneration of both cone and rod photoreceptors and are often driven by mutations in over 100 identified genes. One such gene, CRX, is associated with autosomal dominant forms of the disease. This paper highlights an unusual clinical scenario: a patient initially diagnosed with NF1 during infancy later presented with visual impairments—specifically, myopia and astigmatism—by the age of 15 years. Genetic screening revealed two distinct variants: a pathogenic splice-site mutation in the NF1 gene (c.3871-2A) and a potentially pathogenic alteration in the CRX gene (c.119G>A). This rare combination of variants, identified through molecular diagnostics, challenges the assumption that clinical assessment alone is sufficient in NF1 cases and highlights the role of genomic analysis in refining diagnosis and management strategies.
UR  - https://smerpub.com/article/rare-co-occurrence-of-two-mutational-variants-in-nf1-molecular-testing-reveals-diagnostic-surprises-v7q4ycwaontbggc
ER  -