PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

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.
PMID
Related Publications

A novel locus for maternally inherited human gingival fibromatosis at chromosome 11p15.

A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3-p23.3.

Evidence of genetic heterogeneity for hereditary gingival fibromatosis.

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21.

Authors

Mayor MeshTerms
Keywords

RE1-silencing transcription factor

REST

gingival fibromatosis

mosaic mutation

nonsense-mediated decay

whole-exome sequencing

Journal Title american journal of human genetics
Publication Year Start




PMID- 28686854
OWN - NLM
STAT- In-Process
DA  - 20170707
LR  - 20170721
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 101
IP  - 1
DP  - 2017 Jul 06
TI  - REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
PG  - 149-156
LID - S0002-9297(17)30241-0 [pii]
LID - 10.1016/j.ajhg.2017.06.006 [doi]
AB  - 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.
CI  - Copyright (c) 2017 American Society of Human Genetics. Published by Elsevier Inc.
      All rights reserved.
FAU - Bayram, Yavuz
AU  - Bayram Y
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - White, Janson J
AU  - White JJ
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Elcioglu, Nursel
AU  - Elcioglu N
AD  - Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul
      34899, Turkey; Eastern Mediterranean University School of Medicine, Cyprus,
      Mersin 10 99628, Turkey.
FAU - Cho, Megan T
AU  - Cho MT
AD  - GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
FAU - Zadeh, Neda
AU  - Zadeh N
AD  - Genetics Center, Orange, CA 92868, USA; Division of Medical Genetics, Children's 
      Hospital of Orange County, Orange, CA 92868, USA.
FAU - Gedikbasi, Asuman
AU  - Gedikbasi A
AD  - Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical
      Faculty, Istanbul University, Istanbul 34093, Turkey.
FAU - Palanduz, Sukru
AU  - Palanduz S
AD  - Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical
      Faculty, Istanbul University, Istanbul 34093, Turkey.
FAU - Ozturk, Sukru
AU  - Ozturk S
AD  - Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical
      Faculty, Istanbul University, Istanbul 34093, Turkey.
FAU - Cefle, Kivanc
AU  - Cefle K
AD  - Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical
      Faculty, Istanbul University, Istanbul 34093, Turkey.
FAU - Kasapcopur, Ozgur
AU  - Kasapcopur O
AD  - Department of Child Rheumatology, Cerrahpasa Medical School, Istanbul University,
      Istanbul 34093, Turkey.
FAU - Coban Akdemir, Zeynep
AU  - Coban Akdemir Z
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Pehlivan, Davut
AU  - Pehlivan D
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
FAU - Begtrup, Amber
AU  - Begtrup A
AD  - GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
FAU - Carvalho, Claudia M B
AU  - Carvalho CMB
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Paine, Ingrid Sophie
AU  - Paine IS
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Mentes, Ali
AU  - Mentes A
AD  - Department of Pediatric Dentistry, Faculty of Dentistry, Marmara University,
      Istanbul 34854, Turkey.
FAU - Bektas-Kayhan, Kivanc
AU  - Bektas-Kayhan K
AD  - Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Istanbul
      University, Istanbul 34899, Turkey.
FAU - Karaca, Ender
AU  - Karaca E
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Jhangiani, Shalini N
AU  - Jhangiani SN
AD  - Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030,
      USA.
FAU - Muzny, Donna M
AU  - Muzny DM
AD  - Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030,
      USA.
CN  - Baylor-Hopkins Center for Mendelian Genomics
FAU - Gibbs, Richard A
AU  - Gibbs RA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine,
      Houston, TX 77030, USA.
FAU - Lupski, James R
AU  - Lupski JR
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome
      Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department
      of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic
      address: [email protected]
LA  - eng
GR  - R01 NS058529/NS/NINDS NIH HHS/United States
GR  - U54 HG003273/HG/NHGRI NIH HHS/United States
GR  - UM1 HG006542/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
PMC - PMC5501868
OTO - NOTNLM
OT  - RE1-silencing transcription factor
OT  - REST
OT  - gingival fibromatosis
OT  - mosaic mutation
OT  - nonsense-mediated decay
OT  - whole-exome sequencing
EDAT- 2017/07/08 06:00
MHDA- 2017/07/08 06:00
CRDT- 2017/07/08 06:00
PMCR- 2018/01/06
PHST- 2017/04/13 [received]
PHST- 2017/06/13 [accepted]
AID - S0002-9297(17)30241-0 [pii]
AID - 10.1016/j.ajhg.2017.06.006 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006.