Identification of a SUFU Germline Mutation in a Family With Gorlin Syndrome
Identification of a SUFU Germline Mutation in a Family With Gorlin Syndrome
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DOI：
10.1002/ajmg.a.32944
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发表时间：
2009-07-01
影响因子：
2
通讯作者：
Scarra, G. Bianchi
中科院分区：
文献类型：
--
作者：
Pastorino, L.;Ghiorzo, P.;Scarra, G. Bianchi
Gorlin 综合征 (GS) 以常染色体显性遗传模式遗传，具有高外显率，其特征是一系列发育异常以及患基底细胞癌和髓母细胞瘤的风险增加。 50% 至 85% 的 GS 患者在迄今为止确定的唯一易感基因 PTCH1 中存在种系突变，PTCH1 是 Sonic Hedgehog 信号通路的关键组成部分。该途径中的另一个成分 SUFU 已知与髓母细胞瘤的易感性有关，但迄今为止从未在 GS 患者中报道过。我们在一个 PTCH1 阴性且有 GS 体征和症状（包括髓母细胞瘤）的家族中发现了已知的 c.1022 + 1G>A SUFU 种系剪接突变。这是与 GS 相关的种系 SUFU 突变的首次报道。 (C) 2009 Wiley-Liss, Inc.
Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma. Between 50% and 85% of patients with GS harbor germ line mutations in the only susceptibility gene identified to date, PTCH1, a key component in the Sonic Hedgehog signaling pathway. Another component in this pathway, SUFU, is known to be involved in susceptibility to medulloblastoma but has never been reported in GS patients to date. We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. This is the first report of a germ line SUFU mutation associated with GS. (C) 2009 Wiley-Liss, Inc.