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

B Bartelt-Kirbach; M Wuepping; M Dodrimont-Lattke; D Kaufmann

doi:10.1007/s10048-008-0154-0

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

Neurogenetics. 2009 Feb;10(1):79-85. doi: 10.1007/s10048-008-0154-0. Epub 2008 Oct 11.

Authors

B Bartelt-Kirbach¹, M Wuepping, M Dodrimont-Lattke, D Kaufmann

Affiliation

¹ Institute of Human Genetics, University of Ulm, Ulm, Germany.

PMID: 18850118
DOI: 10.1007/s10048-008-0154-0

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 17
Gene Deletion*
Gene Expression
Humans
Loss of Heterozygosity
Neurofibroma / genetics*
Neurofibroma / pathology
Neurofibromatosis 1* / genetics
Neurofibromatosis 1* / pathology