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30.11.2021 | Original Article

French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED

verfasst von: Tania Cruz Marino, Hélène Villeneuve, Josianne Leblanc, Caroline Duranceau, Philippe Caron, Charles Morin, Marcel Milot, Raphaëlle Chrétien, Maude-Marie Gagnon, Jean Mathieu, Benjamin Ellezam, Daniela Buhas

Erschienen in: Endocrine | Ausgabe 1/2022

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Abstract

Purpose

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is more prevalent in some founder populations, but relatively unexplored in Canada. This study aimed at investigating the French-Canadian patients through phenotypic and genotypic characterization.

Method

Phenotype and demographic characterization were done for 12 affected individuals belonging to eight unrelated families. Samples from 11 cases were analyzed in a molecular clinical laboratory, and muscle biopsies were reviewed for two individuals with a limb-girdle muscle dystrophy.

Results

The clinical phenotype was similar to that observed in European Caucasian populations but differed in the non-endocrine spectrum from the American-reported series of cases. Two cases exhibited a limb-girdle muscle dystrophy, and we found preliminary evidence of a mitochondrial dysfunction, since all three biopsies examined showed COX-deficient fibers in excess of what would be expected for age. Electron microscopy showed mitochondrial accumulation without abnormal cristea or inclusions. The c.1616C > T variant in the AIRE gene was responsible for 100% of APECED cases in the French-Canadian population of Saguenay-Lac-Saint-Jean in Quebec, Canada.

Conclusions

We report the first series of French-Canadian cases affected with APECED. The Saguenay-Lac-Saint-Jean region was uncovered as a new founder population for this condition. Muscle biopsy findings expanded the range of previously described APECED-related myopathology. Long term follow-up of our genetically homogeneous French-Canadian cases may help determine if the c.1616C > T variant increases the risk of muscle involvement. A neonatal screening program is under consideration to prevent undesired life-threatening endocrine manifestations.

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Titel: French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED
verfasst von: Tania Cruz Marino
Hélène Villeneuve
Josianne Leblanc
Caroline Duranceau
Philippe Caron
Charles Morin
Marcel Milot
Raphaëlle Chrétien
Maude-Marie Gagnon
Jean Mathieu
Benjamin Ellezam
Daniela Buhas
Publikationsdatum: 30.11.2021
Verlag: Springer US
Erschienen in: Endocrine / Ausgabe 1/2022
Print ISSN: 1355-008X
Elektronische ISSN: 1559-0100
DOI: https://doi.org/10.1007/s12020-021-02826-7

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French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED