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

Hanna Hyvönen; Kaisa Kettunen; Kristiina Avela; Sirpa Kivirikko; Leila Jeskanen; Sinikka Suominen; Päivi Salminen; Katariina Hannula-Jouppi

doi:10.1111/pde.15820

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

Hanna Hyvönen, Kaisa Kettunen, Kristiina Avela, Sirpa Kivirikko, Leila Jeskanen, Sinikka Suominen, Päivi Salminen, Katariina Hannula-Jouppi

Research output: Contribution to journal › Article › Scientific › peer-review

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.

Original language	English
Journal	Pediatric Dermatology
Number of pages	5
ISSN	0736-8046
DOIs	https://doi.org/10.1111/pde.15820
Publication status	Published - 7 Dec 2024
MoE publication type	A1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© 2024 The Author(s). Pediatric Dermatology published by Wiley Periodicals LLC.

Fields of Science

dermatology
genotype
mosaicism
mutation
phenotype
3123 Gynaecology and paediatrics

Access to Document

10.1111/pde.15820

Pediatric Dermatology - 2024 - Hanna - Mosaic KRAS Mutation in Schimmelpenning Feuerstein Mims Syndrome With OverlappingFinal published version, 400 KBLicence: CC BY-NC-ND

Cite this

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

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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AU - Hyvönen, Hanna

AU - Kettunen, Kaisa

AU - Avela, Kristiina

AU - Kivirikko, Sirpa

AU - Jeskanen, Leila

AU - Suominen, Sinikka

AU - Salminen, Päivi

AU - Hannula-Jouppi, Katariina

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N2 - 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.

AB - 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.

KW - dermatology

KW - genotype

KW - mosaicism

KW - mutation

KW - phenotype

KW - 3123 Gynaecology and paediatrics

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