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Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers
Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single famil...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415794/ https://www.ncbi.nlm.nih.gov/pubmed/22002901 http://dx.doi.org/10.1002/ajmg.a.34173 |
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author | Zaki, Maha S Sattar, Shifteh Massoudi, Rustin A Gleeson, Joseph G |
author_facet | Zaki, Maha S Sattar, Shifteh Massoudi, Rustin A Gleeson, Joseph G |
author_sort | Zaki, Maha S |
collection | PubMed |
description | Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopathy-672, the older child displayed dialysis-dependent NPHP whereas the younger displayed the pathognomonic molar tooth MRI sign (MTS) of JS. A second branch displayed two additional children with NPHP. In Ciliopathy-1491, the oldest child displayed classical features of BBS whereas the two younger children displayed the MTS. Importantly, the children with BBS and NPHP lacked MTS, whereas children with JS lacked obesity or NPHP, and the child with BBS lacked MTS and NPHP. Features common to all three disorders included intellectual disability, postaxial polydactyly, and visual reduction. The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum. © 2011 Wiley Periodicals, Inc. |
format | Online Article Text |
id | pubmed-3415794 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Wiley Subscription Services, Inc., A Wiley Company |
record_format | MEDLINE/PubMed |
spelling | pubmed-34157942012-08-10 Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers Zaki, Maha S Sattar, Shifteh Massoudi, Rustin A Gleeson, Joseph G Am J Med Genet A Clinical Reports Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopathy-672, the older child displayed dialysis-dependent NPHP whereas the younger displayed the pathognomonic molar tooth MRI sign (MTS) of JS. A second branch displayed two additional children with NPHP. In Ciliopathy-1491, the oldest child displayed classical features of BBS whereas the two younger children displayed the MTS. Importantly, the children with BBS and NPHP lacked MTS, whereas children with JS lacked obesity or NPHP, and the child with BBS lacked MTS and NPHP. Features common to all three disorders included intellectual disability, postaxial polydactyly, and visual reduction. The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum. © 2011 Wiley Periodicals, Inc. Wiley Subscription Services, Inc., A Wiley Company 2011-12 2011-10-14 /pmc/articles/PMC3415794/ /pubmed/22002901 http://dx.doi.org/10.1002/ajmg.a.34173 Text en Copyright © 2011 Wiley Periodicals, Inc. http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation. |
spellingShingle | Clinical Reports Zaki, Maha S Sattar, Shifteh Massoudi, Rustin A Gleeson, Joseph G Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers |
title | Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers |
title_full | Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers |
title_fullStr | Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers |
title_full_unstemmed | Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers |
title_short | Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers |
title_sort | co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415794/ https://www.ncbi.nlm.nih.gov/pubmed/22002901 http://dx.doi.org/10.1002/ajmg.a.34173 |
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