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Journal articles
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
Raphael Carapito
1, *
Alice Goldenberg
2
Nicodème Paul
1
Angélique Pichot
1
Albert David
3
Antoine Hamel
4
Clémentine Dumant-Forest
5
Julien Leroux
6
Benjamin Ory
7
Bertrand Isidor
3, 7
Seiamak Bahram
1, *
*
Corresponding author
1
Inserm U1109 - Equipe Plate-forme GENOMAX
Fédération Hospitalo-Universitaire OMICARE, FMTS - Fédération de Médecine Translationnelle de Strasbourg, Immuno-Rhumatologie Moléculaire
Raphael Carapito 1
Correspondent author
Alice Goldenberg 2
Author
Nicodème Paul 1
Author
Angélique Pichot 1
Author
Albert David 3
Author
Antoine Hamel 4
Author
Clémentine Dumant-Forest 5
Author
Julien Leroux 6
Author
1
Inserm U1109 - Equipe Plate-forme GENOMAX (France)
- Fédération Hospitalo-Universitaire OMICARE (France)
- FMTS - Fédération de Médecine Translationnelle de Strasbourg (EA 3072 - France)
- UNISTRA - Université de Strasbourg (4 rue Blaise Pascal - CS 90032 - 67081 Strasbourg cedex - France)
- Immuno-Rhumatologie Moléculaire (1 Place de l'Hôpital 67000 Strasbourg - France)
- UNISTRA - Université de Strasbourg : UMRS1109 (4 rue Blaise Pascal - CS 90032 - 67081 Strasbourg cedex - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1109 (101, rue de Tolbiac, 75013 Paris - France)
2
Service de génétique [Rouen] (Centre Hospitalier Universitaire de Rouen, 1 Rue de Germont, 76031 Rouen - France)
- CHU Rouen (1, rue de Germont 76031 Rouen cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
3
Service de génétique médicale - Unité de génétique clinique [Nantes] (5 allée de l'Île Gloriette, 44000 Nantes - France)
- UN - Université de Nantes (1, quai de Tourville - BP 13522 - 44035 Nantes cedex 1 - France)
- CHU Nantes - Centre hospitalier universitaire de Nantes (1 Place Alexis-Ricordeau, 44000 Nantes - France)
4
Service d'Orthopédie Pédiatrique [CHU Nantes] (France)
- CHU Nantes - Centre hospitalier universitaire de Nantes (1 Place Alexis-Ricordeau, 44000 Nantes - France)
5
Service de pédiatrie médicale et médecine de l'adolescent [Rouen] (CHU de Rouen
1 rue de Germont, 76031 Rouen cedex - France)
- CHU Rouen (1, rue de Germont 76031 Rouen cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
6
Clinique chirurgicale infantile [Rouen] (France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- CHU Rouen (1, rue de Germont 76031 Rouen cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
7
Physiopathologie de la Résorption Osseuse et Thérapie des Tumeurs Osseuses Primitives (France)
- UN - Université de Nantes : EA3822 (1, quai de Tourville - BP 13522 - 44035 Nantes cedex 1 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U957 (101, rue de Tolbiac, 75013 Paris - France)
Abstract : Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, short stature and carpal and tarsal synostosis. SCT is typically known as an autosomal recessive disease caused by variants in the FLNB gene. The genetic basis of the rarer cases of vertical transmissions remains unknown. In two independent families with symptoms related to autosomal dominant SCT, we identified – by exome sequencing – two protein-altering variants in the embryonic myosin heavy chain 3 (MYH3) gene. As MYH3 variants are also associated with distal arthrogryposis (DA1, DA2A, DA2B) and autosomal dominant multiple pterygium syndromes (MPS), the present study expands the phenotypic spectrum of MYH3 variants to autosomal dominant SCT. Vertebral, carpal and tarsal fusions observed in both families further confirm that MYH3 plays a key role in skeletal development.
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Journal articles
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https://www.hal.inserm.fr/inserm-01701252
Contributor : Sandrine Maurice <>
Submitted on : Monday, February 5, 2018 - 4:29:10 PM
Last modification on : Monday, March 16, 2020 - 2:50:04 PM
Contributor : Sandrine Maurice <>
Submitted on : Monday, February 5, 2018 - 4:29:10 PM
Last modification on : Monday, March 16, 2020 - 2:50:04 PM
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Identifiers
- HAL Id : inserm-01701252, version 1
- PUBMEDCENTRAL : PMC5117933
- PUBMED : 27381093
- DOI : 10.1038/ejhg.2016.84
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Citation
Raphael Carapito, Alice Goldenberg, Nicodème Paul, Angélique Pichot, Albert David, et al.. Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (12), pp.1746 - 1751. ⟨10.1038/ejhg.2016.84⟩. ⟨inserm-01701252⟩
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