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The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015
Author(s) -
Sillon Guillaume,
Allard Pierre,
Drury Stella,
Rivière JeanBaptiste,
Bie Isabelle
Publication year - 2020
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1002/jgc4.1284
Subject(s) - incidence (geometry) , demography , population , genetic counseling , medicine , pediatrics , carrier signal , disease , transmission (telecommunications) , genetics , pathology , biology , physics , sociology , optics , electrical engineering , engineering
Tay‐Sachs disease (TSD) is a hereditary neurodegenerative condition inherited through an autosomal recessive pattern. The incidence and carrier frequency of infantile TSD were found to be increased among French Canadians in specific areas of the province of Quebec or calculated from New England populations with French‐Canadian heritage. No accurate infantile TSD carrier frequency for the whole French‐Canadian population in Quebec has been published. In this study, we estimate the incidence and carrier frequency of infantile TSD in the Quebec French‐Canadian population. The number of TSD cases was ascertained during the 1992–2015 period, as well as the number of births to mothers whose language of use is French. Seven cases of TSD have been diagnosed in Quebec during the period of ascertainment. This corresponds to an incidence of 1/218,144, which in turn corresponds to a carrier frequency of 1/234. In the same 24‐year period, there are two French‐Canadian couples who had a fetus prenatally diagnosed with TSD. If these cases are included, the incidence of TSD in the French‐Canadian population of Quebec is 1/169,668 and the carrier frequency 1/206. These findings can be used for genetic counseling and policy decisions regarding carrier screening for TSD in populations of French‐Canadian descent.