Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.

Autor: Hanna H; Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kaisa K; Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kristiina A; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital. Department of Medical Genetics, University of Turku and Turku University Hospital, Helsinki, Finland.; Department of Clinical Genetics, ERN Ithaca, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sirpa K; Department of Clinical Genetics, ERN Ithaca, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Leila J; Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sinikka S; Department of Plastic Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Päivi S; Department of Pediatric Surgery, HUS Rare Diseases Center, VASCERN VASCA European Reference Centre, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Katariina HJ; Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Dec 07. Date of Electronic Publication: 2024 Dec 07.
DOI: 10.1111/pde.15820
Abstrakt: We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients. These findings corroborate the evidence of SFM syndrome being a mosaic RASopathy, broaden the phenotypic spectrum of oculocutaneous mosaic RASopathies, and indicate SFM syndrome as a continuum of the OES-ECCL disorder spectrum.
(© 2024 The Author(s). Pediatric Dermatology published by Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: