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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
- Source :
-
American Journal of Human Genetics . Jul2017, Vol. 101 Issue 1, p149-156. 8p. - Publication Year :
- 2017
-
Abstract
- Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3–p22.3, 5q13–q22, and 11p15) have been mapped to autosomes and one gene ( SOS1 ) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern. Here we report 11 individuals with HGF from three unrelated families. Whole-exome sequencing (WES) revealed three different truncating mutations including two frameshifts and one nonsense variant in RE1-silencing transcription factor ( REST ) in the probands from all families and further genetic and genomic analyses confirmed the WES-identified findings. REST is a transcriptional repressor that is expressed throughout the body; it has different roles in different cellular contexts, such as oncogenic and tumor-suppressor functions and hematopoietic and cardiac differentiation. Here we show the consequences of germline final-exon-truncating mutations in REST for organismal development and the association with the HGF phenotype. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 101
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 123866377
- Full Text :
- https://doi.org/10.1016/j.ajhg.2017.06.006