导致戈林综合征家族三代人患脑膜瘤的新型移码变异体
Novel Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.
作者信息
Askaner Gustav, Lei Ulrikke, Bertelsen Birgitte, Venzo Alessandro, Wadt Karin
机构信息
Department of Plastic Surgery, Hospital South West Jutland, Esbjerg, Denmark.
Department of Dermatology and Allergy, Gentofte Hospital and Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
出版信息
Case Rep Genet. 2019 Jul 28;2019:9650184. doi: 10.1155/2019/9650184. eCollection 2019.
Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes and , both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with and pathogenic variants seem to differ. We present a family with a frameshift variant in the gene c.954del, p.Asn319Thrfs42 leading to meningiomas and multiple basal cell-carcinomas.
戈林综合征主要由肿瘤抑制基因 和 中的致病性种系变异引起，这两个基因都是刺猬信号通路中的调节基因。然而，携带 和 致病性变异的患者的表型似乎有所不同。我们报告了一个家族，该家族的 基因存在c.954del的移码变异，即p.Asn319Thrfs42，导致了脑膜瘤和多发性基底细胞癌。
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