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

Toimittaja(t)

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

https://urn.fi/URN:NBN:fi-fe2025082786579

Verkkojulkaisu

DOI

10.1111/pde.15820

Tiivistelmä

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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