Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue European Journal of Medical Genetics Année : 2019

Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C

Résumé

CANAC1C encodes for the main cardiac L-type calcium channel and mutations on it lead to a prolonged QT interval in Timothy Syndrome (TS). We provide a new de novo constitutional heterozygote missense variation in CACNA1C in a living adult woman, also carrier of the known c.2146-1G>C heterozygous variation of PKP2 inherited from her father. To our knowledge, this patient is the first to have the two variations in these genes. Theses clinical and molecular findings expand the clinical and molecular spectrum of TS and show the interest of next generation sequencing or whole exome sequencing in rare disorders, atypical or novel phenotype.
Fichier principal
Vignette du fichier
S1769721218308310.pdf (398.43 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)

Dates et versions

hal-02393710 , version 1 (25-10-2021)

Licence

Paternité - Pas d'utilisation commerciale

Identifiants

Citer

Cindy Colson, Hervé Mittre, Adeline Busson, Antoine Leenhardt, Isabelle Denjoy, et al.. Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C. European Journal of Medical Genetics, 2019, 62 (7), pp.103648. ⟨10.1016/j.ejmg.2019.04.005⟩. ⟨hal-02393710⟩
75 Consultations
57 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More