Details

Autor(en) / Beteiligte

• Beyens, Aude
• Dequeker, Laure
• Brems, Hilde
• Janssens, Sandra
• Syryn, Hannes
• D'Hooghe, Anne
• De Paepe, Pascale
• Vanwalleghem, Lieve
• Stockman, Annelies
• Vankwikelberge, Elena
• De Schepper, Sofie
• Goeteyn, Marleen
• Delbeke, Patricia
• Callewaert, Bert

Titel

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

Ist Teil von

• International journal of molecular sciences, 2022-04, Vol.23 (7), p.4036

Ort / Verlag

Switzerland: MDPI AG

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in 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 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 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 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.