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. 2022 Jan;75(1):48-58.
doi: 10.1007/s12020-021-02826-7. Epub 2021 Nov 30.

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

Tania Cruz Marino #  1 , Hélène Villeneuve #  2 , Josianne Leblanc  3 , Caroline Duranceau  2 , Philippe Caron  2 , Charles Morin  4 , Marcel Milot  4 , Raphaëlle Chrétien  4 , Maude-Marie Gagnon  5 , Jean Mathieu  6 , Benjamin Ellezam  7 , Daniela Buhas  8
Affiliations

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

Tania Cruz Marino et al. Endocrine. 2022 Jan.

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.

Keywords: APECED; Founder population; French-Canadian; Saguenay-Lac-Saint-Jean.

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