伴有重叠性眼外胚层综合征及脑颅皮肤脂肪瘤病特征的施密尔彭宁-费尔斯坦-米姆斯综合征中的镶嵌性KRAS突变
Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.
作者信息
Hanna Hyvönen, Kaisa Kettunen, Kristiina Avela, Sirpa Kivirikko, Leila Jeskanen, Sinikka Suominen, Päivi Salminen, Katariina Hannula-Jouppi
机构信息
Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
出版信息
Pediatr Dermatol. 2025 May-Jun;42(3):591-595. doi: 10.1111/pde.15820. Epub 2024 Dec 7.
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.
我们报告了一名临床确诊为施密尔彭宁-费尔斯坦-米姆斯（SFM）综合征的患者，但该患者具有许多与眼外胚层综合征（OES）和脑颅皮肤脂肪瘤病（ECCL）重叠的特征。全外显子组测序揭示了一种镶嵌型KRAS c.436G>A、p.（Ala146Thr）突变，该突变先前在三名OES和ECCL患者中被鉴定出。这些发现证实了SFM综合征是一种镶嵌型RAS病的证据，拓宽了眼皮肤镶嵌型RAS病的表型谱，并表明SFM综合征是OES-ECCL疾病谱的一个连续体。
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