Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation

被引：17

作者：

Bartelt-Kirbach, B. ^{[1
]}

Wuepping, M. ^{[1
]}

Dodrimont-Lattke, M. ^{[1
]}

Kaufmann, D. ^{[1
]}

机构：

[1] Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany

来源：

NEUROGENETICS | 2009年 / 10卷 / 01期

关键词：

Neurofibromatosis type 1; NF1 modifying genes; NF1 microdeletion syndrome; Neurofibroma; TUMOR-SUPPRESSOR REGION; SCHWANN-CELLS; MAST-CELLS; TYPE-1; DELETIONS; ACTIVATION; MICRORNAS; PHENOTYPE; 17Q11.2; PROTEIN;

D O I：

10.1007/s10048-008-0154-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The hallmark of neurofibromatosis type 1 (NF1) are multiple dermal neurofibromas. They show high inter- and intrafamilial variability for which the influence of modifying genes is discussed. NF1 patients presenting microdeletions spanning NF1 and several contiguous genes have an earlier onset and higher number of dermal neurofibromas than classical NF1 patients, pointing to one of the deleted genes as modifier. Expression analysis of 13 genes of the microdeletion region in dermal neurofibromas and other tissues revealed four candidates for the modification of neurofibroma formation: CENTA2, RAB11FIP4, C17orf79, and UTP6.

引用

页码：79 / 85

页数：7

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