http://purl.uniprot.org/citations/31373179 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/31373179 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundOFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral-facial-digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X-linked intellectual disability, Joubert syndrome type 10 (JBTS10), Simpson-Golabi-Behmel syndrome type 2 (SGBS2), and retinitis pigmentosa. Recently, OFD1 pathogenic variants have been implicated in primary ciliary dyskinesia (PCD), a disorder of the motile cilia with a phenotype that includes recurrent oto-sino-pulmonary infections, situs abnormalities, and decreased fertility.MethodsWe describe three male patients with PCD who were found to have hemizygous pathogenic variants in OFD1, further supporting that PCD is part of a clinical spectrum of OFD1-related disorders. In addition, we provide a review of the available clinical literature describing patients with OFD1 variants and highlight the phenotypic variability of OFD1-related disease.ResultsSome individuals with hemizygous OFD1 variants have PCD, either apparently isolated or in combination with other features of OFD1-related disorders.ConclusionAs clinicians consider the presence or absence of conditions allelic at OFD1, PCD should be considered part of the spectrum of OFD1-related disorders. Understanding the OFD1-related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.org/dc/terms/identifier | "doi:10.1002/mgg3.911"xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Knowles M.R."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Zariwala M.A."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Rosenfeld M."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Wolf W.E."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "DeBrosse S."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Aitken M.L."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Hannah W.B."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Kinghorn B."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/author | "Strausbaugh S."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/name | "Mol Genet Genomic Med"xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/pages | "e911"xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/title | "The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia."xsd:string |
http://purl.uniprot.org/citations/31373179 | http://purl.uniprot.org/core/volume | "7"xsd:string |
http://purl.uniprot.org/citations/31373179 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31373179 |
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http://purl.uniprot.org/uniprot/#_O75665-mappedCitation-31373179 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31373179 |