Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features - UTU Research Portal

A1 Refereed original research article in a scientific journal

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

Authors: Hyvönen, Hanna; Kettunen, Kaisa; Avela, Kristiina; Kivirikko, Sirpa; Jeskanen, Leila; Suominen, Sinikka; Salminen, Päivi; Hannula‐Jouppi, Katariina

Publisher: Wiley

Publication year: 2024

Journal: Pediatric Dermatology

Journal name in source: Pediatric Dermatology

Journal acronym: Pediatr Dermatol

ISSN: 0736-8046

eISSN: 1525-1470

DOI: https://doi.org/10.1111/pde.15820(external)

Web address : https://doi.org/10.1111/pde.15820(external)

Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/477261590(external)

Abstract

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.

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Pediatric Dermatology - 2024 - Hanna - Mosaic KRAS Mutation in Schimmelpenning Feuerstein Mims Syndrome With Overlapping.pdf

Funding information in the publication:
This work was supported by the State Funding for University-level Health Research.