Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

Orofaciodigital syndrome type 1 or oral–facial–digital syndrome type 1 (OFDS1, OMIM #311200) is an X-linked malformation syndrome caused by hemizygous mutations in the OFD1 (OMIM #300170) gene with presumed male lethality. Recently males with OFDS1 and mutations in OFD1 have been described. We repor...

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Autores principales: Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760119/
https://www.ncbi.nlm.nih.gov/pubmed/27081566
http://dx.doi.org/10.1038/hgv.2015.69
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author Wentzensen, Ingrid M
Johnston, Jennifer J
Patton, John H
Graham, John M
Sapp, Julie C
Biesecker, Leslie G
author_facet Wentzensen, Ingrid M
Johnston, Jennifer J
Patton, John H
Graham, John M
Sapp, Julie C
Biesecker, Leslie G
author_sort Wentzensen, Ingrid M
collection PubMed
description Orofaciodigital syndrome type 1 or oral–facial–digital syndrome type 1 (OFDS1, OMIM #311200) is an X-linked malformation syndrome caused by hemizygous mutations in the OFD1 (OMIM #300170) gene with presumed male lethality. Recently males with OFDS1 and mutations in OFD1 have been described. We report a 17-year-old male with molar tooth sign, small cerebellum with absence of the cerebellar vermis, complex polydactyly with a Y-shaped metacarpal, renal failure and craniofacial anomalies caused by a novel splice-mutation (c.1129+4A>T) in the OFD1 gene identified by exome sequencing.
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spelling pubmed-47601192016-04-14 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly Wentzensen, Ingrid M Johnston, Jennifer J Patton, John H Graham, John M Sapp, Julie C Biesecker, Leslie G Hum Genome Var Data Report Orofaciodigital syndrome type 1 or oral–facial–digital syndrome type 1 (OFDS1, OMIM #311200) is an X-linked malformation syndrome caused by hemizygous mutations in the OFD1 (OMIM #300170) gene with presumed male lethality. Recently males with OFDS1 and mutations in OFD1 have been described. We report a 17-year-old male with molar tooth sign, small cerebellum with absence of the cerebellar vermis, complex polydactyly with a Y-shaped metacarpal, renal failure and craniofacial anomalies caused by a novel splice-mutation (c.1129+4A>T) in the OFD1 gene identified by exome sequencing. Nature Publishing Group 2016-02-04 /pmc/articles/PMC4760119/ /pubmed/27081566 http://dx.doi.org/10.1038/hgv.2015.69 Text en Copyright © 2016 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 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-sa/4.0/
spellingShingle Data Report
Wentzensen, Ingrid M
Johnston, Jennifer J
Patton, John H
Graham, John M
Sapp, Julie C
Biesecker, Leslie G
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
title Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
title_full Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
title_fullStr Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
title_full_unstemmed Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
title_short Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
title_sort exome sequencing identifies a mutation in ofd1 in a male with joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760119/
https://www.ncbi.nlm.nih.gov/pubmed/27081566
http://dx.doi.org/10.1038/hgv.2015.69
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