Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

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 describe...

Descripción completa

Detalles Bibliográficos
Autores principales: Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546/
https://www.ncbi.nlm.nih.gov/pubmed/27081551
http://dx.doi.org/10.1038/hgv.2015.45
_version_ 1782420419239739392
author Wentzensen, Ingrid M
Johnston, Jennifer J
Keppler-Noreuil, Kim
Acrich, Karina
David, Karen
Johnson, Kisha D
Graham, John M
Sapp, Julie C
Biesecker, Leslie G
author_facet Wentzensen, Ingrid M
Johnston, Jennifer J
Keppler-Noreuil, Kim
Acrich, Karina
David, Karen
Johnson, Kisha D
Graham, John M
Sapp, Julie C
Biesecker, Leslie G
author_sort Wentzensen, Ingrid M
collection PubMed
description 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.
format Online
Article
Text
id pubmed-4785546
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-47855462016-04-14 Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies Wentzensen, Ingrid M Johnston, Jennifer J Keppler-Noreuil, Kim Acrich, Karina David, Karen Johnson, Kisha D Graham, John M Sapp, Julie C Biesecker, Leslie G Hum Genome Var Data Report 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. Nature Publishing Group 2015-11-19 /pmc/articles/PMC4785546/ /pubmed/27081551 http://dx.doi.org/10.1038/hgv.2015.45 Text en Copyright © 2015 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Wentzensen, Ingrid M
Johnston, Jennifer J
Keppler-Noreuil, Kim
Acrich, Karina
David, Karen
Johnson, Kisha D
Graham, John M
Sapp, Julie C
Biesecker, Leslie G
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
title Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
title_full Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
title_fullStr Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
title_full_unstemmed Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
title_short Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
title_sort exome sequencing identifies novel mutations in c5orf42 in patients with joubert syndrome with oral–facial–digital anomalies
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546/
https://www.ncbi.nlm.nih.gov/pubmed/27081551
http://dx.doi.org/10.1038/hgv.2015.45
work_keys_str_mv AT wentzenseningridm exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT johnstonjenniferj exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT kepplernoreuilkim exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT acrichkarina exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT davidkaren exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT johnsonkishad exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT grahamjohnm exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT sappjuliec exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies
AT bieseckerleslieg exomesequencingidentifiesnovelmutationsinc5orf42inpatientswithjoubertsyndromewithoralfacialdigitalanomalies

Ejemplares similares