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OFD1 : One gene, several disorders
The OFD1 protein is necessary for the formation of primary cilia and left–right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (O...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303915/ https://www.ncbi.nlm.nih.gov/pubmed/35112477 http://dx.doi.org/10.1002/ajmg.c.31962 |
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author | Pezzella, Nunziana Bove, Guglielmo Tammaro, Roberta Franco, Brunella |
author_facet | Pezzella, Nunziana Bove, Guglielmo Tammaro, Roberta Franco, Brunella |
author_sort | Pezzella, Nunziana |
collection | PubMed |
description | The OFD1 protein is necessary for the formation of primary cilia and left–right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (OFDI) and Joubert syndromes (JBS10), and Primary ciliary dyskinesia (PCD), to the engagement of single tissues such as in the case of retinitis pigmentosa (RP23). The inheritance pattern of these condition differs from X‐linked dominant male‐lethal (OFDI) to X‐linked recessive (JBS10, PCD, and RP23). Distinctive biological peculiarities of the protein, which can contribute to explain the extreme clinical variability and the genetic mechanisms underlying the different disorders are discussed. The extensive spectrum of clinical manifestations observed in OFD1‐mutated patients represents a paradigmatic example of the complexity of genetic diseases. The elucidation of the mechanisms underlying this complexity will expand our comprehension of inherited disorders and will improve the clinical management of patients. |
format | Online Article Text |
id | pubmed-9303915 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93039152022-07-28 OFD1 : One gene, several disorders Pezzella, Nunziana Bove, Guglielmo Tammaro, Roberta Franco, Brunella Am J Med Genet C Semin Med Genet Review Articles The OFD1 protein is necessary for the formation of primary cilia and left–right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (OFDI) and Joubert syndromes (JBS10), and Primary ciliary dyskinesia (PCD), to the engagement of single tissues such as in the case of retinitis pigmentosa (RP23). The inheritance pattern of these condition differs from X‐linked dominant male‐lethal (OFDI) to X‐linked recessive (JBS10, PCD, and RP23). Distinctive biological peculiarities of the protein, which can contribute to explain the extreme clinical variability and the genetic mechanisms underlying the different disorders are discussed. The extensive spectrum of clinical manifestations observed in OFD1‐mutated patients represents a paradigmatic example of the complexity of genetic diseases. The elucidation of the mechanisms underlying this complexity will expand our comprehension of inherited disorders and will improve the clinical management of patients. John Wiley & Sons, Inc. 2022-02-02 2022-03 /pmc/articles/PMC9303915/ /pubmed/35112477 http://dx.doi.org/10.1002/ajmg.c.31962 Text en © 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Articles Pezzella, Nunziana Bove, Guglielmo Tammaro, Roberta Franco, Brunella OFD1 : One gene, several disorders |
title |
OFD1
: One gene, several disorders |
title_full |
OFD1
: One gene, several disorders |
title_fullStr |
OFD1
: One gene, several disorders |
title_full_unstemmed |
OFD1
: One gene, several disorders |
title_short |
OFD1
: One gene, several disorders |
title_sort | ofd1
: one gene, several disorders |
topic | Review Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303915/ https://www.ncbi.nlm.nih.gov/pubmed/35112477 http://dx.doi.org/10.1002/ajmg.c.31962 |
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