Novel founder mutation in French‐Canadian families with Naxos disease

Q: What is the clinical evidence from this study?

Study design: Letter. Population: Naxos disease. Intervention: Novel founder mutation.

Q: What does this research mean for the field?

A novel founder mutation underlies Naxos disease in French-Canadian families. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Tania Cruz Mariño; Bruno Maranda; Josianne Leblanc; Annabelle Pratte; Melinda Barabas; Audrey Dupéré; Sébastien Lévesque

doi:10.1111/cge.12971

January 18, 2017Clinical Genetics

Novel founder mutation in French‐Canadian families with Naxos disease

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Key result

Novel founder mutation identified in French-Canadian families with Naxos disease.

Key Points

To identify and describe a novel genetic founder mutation responsible for Naxos disease in families of French-Canadian descent.
Clinical evaluation and molecular genetic analysis of French-Canadian families displaying symptoms of Naxos disease.
A novel founder mutation associated with Naxos disease was identified in French-Canadian kindreds.
Affected individuals presented with the characteristic clinical features of the cardiocutaneous condition, including cardiomyopathy and cutaneous manifestations.

Structured PICO

P

Population

French-Canadian families with Naxos disease evaluated in Quebec, Canada.

This letter to the editor reports a novel founder mutation associated with Naxos disease in French-Canadian families.

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Answers are grounded in this paper and cite their sources.

Implication

May aid targeted testing in French-Canadian Naxos families; extends mutational spectrum but leaves validation open.

Abstract

Clinical GeneticsVolume 92, Issue 4 p. 451-453 LETTER TO THE EDITOR Novel founder mutation in French-Canadian families with Naxos disease T. Cruz Marino, Corresponding Author T. Cruz Marino taniacruz@hotmail.ca Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, Canada Correspondence Tania C. Marino, MD, PhD, Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, 305 Saint Vallier, Chicoutimi, Quebec G7H5H6, Canada. Email: taniacruz@hotmail.ca Sébastien Lévesque, MD, PhD, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, 3001, 12e avenue nord, Sherbrooke, Quebec J1H5N4, Canada. Email: sebastien.a.levesque@usherbrooke.caSearch for more papers by this authorB. Maranda, B. Maranda Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Quebec, CanadaSearch for more papers by this authorJ. Leblanc, J. Leblanc Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorA. Pratte, A. Pratte Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorM. Barabas, M. Barabas Department of Cardiology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorA. Dupéré, A. Dupéré Department of Dermatology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorS. Lévesque, Corresponding Author S. Lévesque sebastien.a.levesque@usherbrooke.ca Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Quebec, Canada Correspondence Tania C. Marino, MD, PhD, Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, 305 Saint Vallier, Chicoutimi, Quebec G7H5H6, Canada. Email: taniacruz@hotmail.ca Sébastien Lévesque, MD, PhD, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, 3001, 12e avenue nord, Sherbrooke, Quebec J1H5N4, Canada. Email: sebastien.a.levesque@usherbrooke.caSearch for more papers by this author T. Cruz Marino, Corresponding Author T. Cruz Marino taniacruz@hotmail.ca Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, Canada Correspondence Tania C. Marino, MD, PhD, Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, 305 Saint Vallier, Chicoutimi, Quebec G7H5H6, Canada. Email: taniacruz@hotmail.ca Sébastien Lévesque, MD, PhD, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, 3001, 12e avenue nord, Sherbrooke, Quebec J1H5N4, Canada. Email: sebastien.a.levesque@usherbrooke.caSearch for more papers by this authorB. Maranda, B. Maranda Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Quebec, CanadaSearch for more papers by this authorJ. Leblanc, J. Leblanc Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorA. Pratte, A. Pratte Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorM. Barabas, M. Barabas Department of Cardiology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorA. Dupéré, A. Dupéré Department of Dermatology, CIUSSS Saguenay Lac-St-Jean, Chicoutimi, Quebec, CanadaSearch for more papers by this authorS. Lévesque, Corresponding Author S. Lévesque sebastien.a.levesque@usherbrooke.ca Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke, Sherbrooke, Quebec, Canada Correspondence Tania C. Marino, MD, PhD, Department of Medical Biology, CIUSSS Saguenay Lac-St-Jean, 305 Saint Vallier, Chicoutimi, Quebec G7H5H6, Canada. Email: taniacruz@hotmail.ca Sébastien Lévesque, MD, PhD, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, 3001, 12e avenue nord, Sherbrooke, Quebec J1H5N4, Canada. Email: sebastien.a.levesque@usherbrooke.caSearch for more papers by this author First published: 18 January 2017 https://doi.org/10.1111/cge.12971Citations: 12Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.

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Cite This Study

Mariño et al. (2017) conducted a letter in Naxos disease. Novel founder mutation was evaluated.

synapsesocial.com/papers/6ae8c56047ff1f9b5ffeb832 https://doi.org/10.1111/cge.12971

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Novel founder mutation in French‐Canadian families with Naxos disease

Key Points

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Novel founder mutation in French‐Canadian families with Naxos disease

Key Points

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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