Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC

被引：67

作者：

Niemann, S

Müller, U

Engelhardt, D

Lohse, P

机构：

[1] Univ Giessen, Inst Humangenet, D-35392 Giessen, Germany

[2] Univ Munich, Klinikum Grosshadern, Med Klin 2, D-8000 Munich, Germany

[3] Univ Munich, Klinikum Grosshadern, Inst Klin Chem, D-8000 Munich, Germany

来源：

HUMAN GENETICS | 2003年 / 113卷 / 01期

关键词：

D O I：

10.1007/s00439-003-0938-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in SDHC cause autosomal dominant paraganglioma, type 3 (PGL3), and have to date been demonstrated in only one family. Here, we report on a novel mutation in a patient with a malignant, catecholamine-producing paraganglioma at the carotid bifurcation. The mutation is a G-->T transversion at position +1 of intron 5 of the SDHC gene, leading to the deletion of exon 5 and a shift in the reading frame.

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页码：92 / 94

页数：3

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