1. Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies
- Author
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Aude Beyens, Laure Dequeker, Hilde Brems, Sandra Janssens, Hannes Syryn, Anne D’Hooghe, Pascale De Paepe, Lieve Vanwalleghem, Annelies Stockman, Elena Vankwikelberge, Sofie De Schepper, Marleen Goeteyn, Patricia Delbeke, and Bert Callewaert
- Subjects
Biochemistry & Molecular Biology ,POSTZYGOTIC HRAS ,GERMLINE KRAS ,Chemistry, Multidisciplinary ,COSTELLO ,Catalysis ,Inorganic Chemistry ,Medicine and Health Sciences ,KRAS ,PHAKOMATOSIS PIGMENTOKERATOTICA ,Physical and Theoretical Chemistry ,skin and connective tissue diseases ,epibulbar dermoid ,Molecular Biology ,Spectroscopy ,didymosis ,Science & Technology ,oculoectodermal syndrome ,MUTATIONS ,Organic Chemistry ,Biology and Life Sciences ,General Medicine ,CANCER ,NOONAN SYNDROME ,PSILOLIPARUS ,encephalocraniocutaneous syndrome ,Computer Science Applications ,epidermal nevus ,Chemistry ,RASopathy ,nevus psiloliparus ,Physical Sciences ,Life Sciences & Biomedicine ,GTP ,non-allelic twin spotting - Abstract
Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 KRAS variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. The presence of a nevus psiloliparus in individuals with OES indicates that this finding is not specific for ECCL and highlights the phenotypical overlap between ECCL and OES. The presence of the somatic KRAS variant in the nevus psiloliparus resolves the underlying molecular etiology of this fatty-tissue nevus. In addition, this finding refutes the theory of non-allelic twin-spotting as an underlying hypothesis to explain the concurrent presence of two different mosaicisms in one individual. The identification of codon 146 KRAS variants in isolated epidermal nevus introduces a new hot spot for this condition, which is useful for increasing molecular genetic testing using targeted gene sequencing panels. ispartof: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES vol:23 issue:7 ispartof: location:Switzerland status: published
- Published
- 2022
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