MET is a new confirmed gene responsible for familial distal arthrogryposis

Debora Maffeo; Anna Carrer; Angela Rina; Loredaria Adamo; Caterina Lo Rizzo; Mirella Bruttini; Alessandra Renieri; Francesca Mari

doi:10.1038/s44321-024-00044-y

MET is a new confirmed gene responsible for familial distal arthrogryposis

EMBO Mol Med. 2024 Apr;16(4):720-722. doi: 10.1038/s44321-024-00044-y. Epub 2024 Mar 1.

Authors

Debora Maffeo^{1

2}, Anna Carrer^{1

2

3}, Angela Rina^{1

2}, Loredaria Adamo^{1

2}, Caterina Lo Rizzo³, Mirella Bruttini^{1

2

3}, Alessandra Renieri^{1

2

3}, Francesca Mari^{4

5

6}

Affiliations

¹ Medical Genetics, University of Siena, 53100, Siena, Italy.
² Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100, Siena, Italy.
³ Genetica Medica, Azienda Ospedaliera universitaria Senese, 53100, Siena, Italy.
⁴ Medical Genetics, University of Siena, 53100, Siena, Italy. [email protected].
⁵ Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100, Siena, Italy. [email protected].
⁶ Genetica Medica, Azienda Ospedaliera universitaria Senese, 53100, Siena, Italy. [email protected].

Abstract

In this Correspondence, F. Mari and colleagues report a second two-generation family with distal arthrogryposis caused by a mutation in MET tyrosine kinase.

Publication types

Letter

MeSH terms

Arthrogryposis* / genetics
Humans

Grants and funding

PNRR-THE-Tuscany Health Ecosystem-Spoke 7-Innovating Translational Medicine/Ministero dell'Istruzione, dell'Università e della Ricerca (MIUR)