@article {390,
	title = {REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.},
	journal = {Am J Hum Genet},
	volume = {101},
	year = {2017},
	month = {2017 Jul 06},
	pages = {149-156},
	abstract = {<p>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.</p>},
	keywords = {Adolescent, Base Sequence, Chromosome Segregation, Exons, Family, Female, Fibromatosis, Gingival, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Pedigree, Repressor Proteins},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2017.06.006},
	author = {Bayram, Yavuz and White, Janson J and Elcioglu, Nursel and Cho, Megan T and Zadeh, Neda and Gedikbasi, Asuman and Palanduz, Sukru and Ozturk, Sukru and Cefle, Kivanc and Kasapcopur, Ozgur and Coban Akdemir, Zeynep and Pehlivan, Davut and Begtrup, Amber and Carvalho, Claudia M B and Paine, Ingrid Sophie and Mentes, Ali and Bektas-Kayhan, Kivanc and Karaca, Ender and Jhangiani, Shalini N and Muzny, Donna M and Gibbs, Richard A and Lupski, James R}
}
@article {79,
	title = {DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.},
	journal = {Am J Hum Genet},
	volume = {98},
	year = {2016},
	month = {2016 Mar 03},
	pages = {553-561},
	abstract = {<p>Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.</p>},
	keywords = {Adaptor Proteins, Signal Transducing, Alleles, Base Sequence, Codon, Nonsense, Craniofacial Abnormalities, Dishevelled Proteins, Dwarfism, Exons, Female, Frameshift Mutation, Genetic Variation, Humans, Limb Deformities, Congenital, Male, Molecular Sequence Data, Phosphoproteins, Proto-Oncogene Proteins, Receptor Tyrosine Kinase-like Orphan Receptors, Sequence Analysis, DNA, Sequence Deletion, Urogenital Abnormalities, Wnt Proteins, Wnt-5a Protein},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2016.01.005},
	author = {White, Janson J and Mazzeu, Juliana F and Hoischen, Alexander and Bayram, Yavuz and Withers, Marjorie and Gezdirici, Alper and Kimonis, Virginia and Steehouwer, Marloes and Jhangiani, Shalini N and Muzny, Donna M and Gibbs, Richard A and van Bon, Bregje W M and Sutton, V Reid and Lupski, James R and Brunner, Han G and Carvalho, Claudia M B}
}
