Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing-Reference-Cited by-同舟云学术

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Published:2016-11-21 Issue:2 Volume:173 Page:531-536
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Baurand Amandine¹,Falcon-Eicher Sylvie²³,Laurent Gabriel³,Villain Elisabeth⁴,Bonnet Caroline²³,Thauvin-Robinet Christel¹,Jacquot Caroline¹,Eicher Jean-Christophe³,Gourraud Jean-Baptiste⁵,Schmitt Sébastien⁶,Bézieau Stéphane⁶,Giraud Mathilde⁶,Dumont Solenne⁶,Kuentz Paul⁷,Probst Vincent⁵,Burguet Antoine⁸,Kyndt Florence⁵⁶,Faivre Laurence¹³⁷

Affiliation:

1. Centre de Génétique et Centre de Référence des Maladies Rares-Anomalies du Développement et Syndromes Malformatifs; CHU Dijon; Dijon France

2. Cardiologie Pédiatrique; CHU Dijon; Dijon France

3. Cardiologie et Centre de Compétence des Troubles du Rythme Cardiaque Héréditaires; CHU Dijon; Dijon France

4. Cardiologie Pédiatrique; Hôpital Necker-Enfants Malades; Paris France

5. Institut du Thorax, INSERM U1087; CHU Nantes; Nantes France

6. Service de Génétique Médicale; CHU Nantes; Nantes France

7. EA4271, Génétique des Anomalies du Développement; Université de Bourgogne-Franche Comté; Dijon France

8. Réanimation Pédiatrie; CHU Dijon; Dijon France

Funder

Regional Council of Burgundy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38045/fullpdf

Reference14 articles.

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2. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death;Antzelevitch;Circulation,2007

3. Screening for copy number variation in genes associated with the long QT syndrome: Clinical relevance;Barc;J Am Coll Cardiol,2011

4. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome;Beicht;Gene,2013

5. Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations;Béziau;Basic Res Cardiol,2014

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1. Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review;Frontiers in Cardiovascular Medicine;2022-11-29

2. Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects;International Journal of Molecular Sciences;2022-07-22

3. Update on the Molecular Genetics of Timothy Syndrome;Frontiers in Pediatrics;2021-05-17

4. Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies;Frontiers in Synaptic Neuroscience;2021-03-03

5. Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside;Experimental Biology and Medicine;2019-07-19