Title :

Tar syndrome: clinical and molecular characterization of a cohort of 26 patients and description of novel non-coding variants of rbm8a

Author(s) :

Boussion, Simon [Auteur]
Escande, Fabienne [Auteur]
Jourdain, Anne-Sophie [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Smol, Thomas [Auteur]
Brunelle, Perrine [Auteur]
Duhamel, Celine [Auteur]
Alembik, Yves [Auteur]
Attie-Bitach, Tania [Auteur]
Baujat, Genevieve [Auteur]
Bazin, Anne [Auteur]
Bonniere, Maryse [Auteur]
Carassou, Philippe [Auteur]
Carles, Dominique [Auteur]
Devisme, Louise [Auteur]
Goizet, Cyril [Auteur]
Goldenberg, Alice [Auteur]
Grotto, Sarah [Auteur]
Guichet, Agnes [Auteur]
Jouk, Pierre-Simon [Auteur]
Loeuillet, Laurence [Auteur]
Mechler, Charlotte [Auteur]
Michot, Caroline [Auteur]
Pelluard, Fanny [Auteur]
Putoux, Audrey [Auteur]
Whalen, Sandra [Auteur]
Ghoumid, Jamal [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Manouvrier, Sylvie [Auteur]
Petit, Florence [Auteur]

Journal title :

Human mutation

Abbreviated title :

Hum. Mutat.

Publication date :

2020-03-30

ISSN :

1098-1004

Keyword(s) :

RBM8A
regulatory SNP
Y14
TAR syndrome
exon junction complex

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Thrombocytopenia-absent radius (TAR) syndrome is characterized by radial defect and neonatal thrombocytopenia. It is caused by biallelic variants of RBM8A gene (1q21.1) with the association of a null allele and a hypomorphic ...
Show more >Thrombocytopenia-absent radius (TAR) syndrome is characterized by radial defect and neonatal thrombocytopenia. It is caused by biallelic variants of RBM8A gene (1q21.1) with the association of a null allele and a hypomorphic noncoding variant. RBM8A encodes Y14, a core protein of the exon junction complex involved in messenger RNA maturation. To date, only two hypomorphic variants have been identified. We report on a cohort of 26 patients affected with TAR syndrome and carrying biallelic variants in RBM8A. Half patients carried a 1q21.1 deletion and one of the two known hypomorphic variants. Four novel noncoding variants of RBM8A were identified in the remaining patients. We developed experimental models enabling their functional characterization in vitro. Two variants, located respectively in the 5'-untranslated region (5'-UTR) and 3'-UTR regions, are responsible for a diminished expression whereas two intronic variants alter splicing. Our results bring new insights into the molecular knowledge of TAR syndrome and enabled us to propose genetic counseling for patients' families.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2021-09-02T07:02:31Z