title: Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.
abstract: Oral-facial-digital syndrome VI (OFD6 OMIM #277170), also called Varadi-Papp syndrome, is a ciliopathy inherited in an autosomal recessive pattern. Recently, mutations in C5orf42 (OMIM #614571) have been associated with OFD6. OFD6 overlaps with Joubert syndrome and mutations in C5orf42 were described in Joubert syndrome 17 (JBTS17, OMIM #614571). Using exome sequencing we report three novel variants and one previously reported variant in the C5orf42 gene in patients with OFD6.
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health, Bethesda, MD, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
authors.forename: Ingrid M
authors.initials: IM
authors.lastname: Wentzensen
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Johnston
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Kim
authors.initials: K
authors.lastname: Keppler-Noreuil
authors.affiliation: Metropolitan Hospital Center, Genetics Services , New York, NY, USA.
authors.forename: Karina
authors.initials: K
authors.lastname: Acrich
authors.affiliation: Metropolitan Hospital Center, Genetics Services , New York, NY, USA.
authors.forename: Karen
authors.initials: K
authors.lastname: David
authors.affiliation: Rush University Medical Center, Genetic Disorders Program , Chicago, IL, USA.
authors.forename: Kisha D
authors.initials: KD
authors.lastname: Johnson
authors.affiliation: Medical Genetics Institute, Cedars Sinai Medical Center, University of California , Los Angeles, CA, USA.
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Julie C
authors.initials: JC
authors.lastname: Sapp
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Leslie G
authors.identifier: 0000-0002-0197-3811
authors.initials: LG
authors.lastname: Biesecker