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

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

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

Kustantaja: Wiley

Julkaisuvuosi: 2024

Journal: Pediatric Dermatology

Tietokannassa oleva lehden nimi: Pediatric Dermatology

Lehden akronyymi: Pediatr Dermatol

ISSN: 0736-8046

eISSN: 1525-1470

DOI: https://doi.org/10.1111/pde.15820

Verkko-osoite: https://doi.org/10.1111/pde.15820

Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/477261590

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

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This work was supported by the State Funding for University-level Health Research.