A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3

Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this...

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Autores principales: Thuresson, Ann‐Charlotte, Croft, Brittany, Hailer, Yasmin D., Liminga, Gunnar, Arvidsson, Carl‐Göran, Harley, Vincent R., Stattin, Eva‐Lena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839447/
https://www.ncbi.nlm.nih.gov/pubmed/33174625
http://dx.doi.org/10.1111/cge.13880
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author Thuresson, Ann‐Charlotte
Croft, Brittany
Hailer, Yasmin D.
Liminga, Gunnar
Arvidsson, Carl‐Göran
Harley, Vincent R.
Stattin, Eva‐Lena
author_facet Thuresson, Ann‐Charlotte
Croft, Brittany
Hailer, Yasmin D.
Liminga, Gunnar
Arvidsson, Carl‐Göran
Harley, Vincent R.
Stattin, Eva‐Lena
author_sort Thuresson, Ann‐Charlotte
collection PubMed
description Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.
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spelling pubmed-78394472021-02-01 A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3 Thuresson, Ann‐Charlotte Croft, Brittany Hailer, Yasmin D. Liminga, Gunnar Arvidsson, Carl‐Göran Harley, Vincent R. Stattin, Eva‐Lena Clin Genet Short Reports Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously. Blackwell Publishing Ltd 2021-01-13 2021-02 /pmc/articles/PMC7839447/ /pubmed/33174625 http://dx.doi.org/10.1111/cge.13880 Text en © 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Reports
Thuresson, Ann‐Charlotte
Croft, Brittany
Hailer, Yasmin D.
Liminga, Gunnar
Arvidsson, Carl‐Göran
Harley, Vincent R.
Stattin, Eva‐Lena
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
title A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
title_full A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
title_fullStr A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
title_full_unstemmed A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
title_short A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
title_sort novel heterozygous variant in fgf9 associated with previously unreported features of multiple synostosis syndrome 3
topic Short Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839447/
https://www.ncbi.nlm.nih.gov/pubmed/33174625
http://dx.doi.org/10.1111/cge.13880
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