French-Canadian

At least two dozen inherited conditions are more common among people with French-Canadian ancestry than in other groups. [PMID 8194844]

• Andermann syndrome, or agenesis of the corpus callosum with peripheral neuropathy (ACCPN)

• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS, also called SACS) is a rare neurodegenerative disease that begins in childhood. About 1 in 22 French-Canadians from the Charlevoix and Saguenay-Lac-St-Jean regions of northeastern Quebec carries a mutation that causes the disease, which affects 1 in 2,000 people in this group. It can also occur among other populations. [PMID 8472930] [PMID 21450511] [PMID 16736723] [PMID 21726565]

• Cystic fibrosis appears in about 1 in 1,000 infants in one isolated region of Quebec. [1] [PMID 9618063]

• Familial hypercholesterolemia is an autosomal dominant condition caused by mutations in the LDL cholesterol receptor gene.

• Hypertension is associated with the T allele of SNP rs5370, but only in individuals who are not physically fit. [PMID 17938376]

• Leigh syndrome, French-Canadian type (LSFC), is caused by a mutation carried by 1 in 28 people in one region of Quebec. OMIM [PMID 12529507]

• Lipoprotein lipase deficiency is 100 times more common in parts of Quebec than elsewhere.

• Mednik syndrome, a severe inherited disease caused by defects in the adaptor protein gene AP1s1, was identified in 2008. [2] [3] [4]

• Oculopharyngeal muscular dystrophy (OMD) is an autosomal dominant disorder that appears in the fifth or sixth decade of life.

• Tay-Sachs disease [PMID 17259242] occurs at a higher rate among Ashkenazi Jews and people of Cajun and French-Canadian ancestry.

• Tyrosinemia type I is a serious disorder caused by an enzyme deficiency. It occurs worldwide in about 1 in 100,000 people, but it affects 1 in 2,000 individuals in one region of Quebec. [[5]]

The French-Canadian Genealogy Podcast, Maple Stars & Stripes, mentions several additional conditions that are more prevalent in French-Canadians, including:

• Clouston’s hidrotic ectodermal dysplasia
• Charcot-Marie-Tooth disease
• Type 1 Protein C deficiency (see PROC)
• Hemophilia
• Colorblindness
• Multiple sclerosis
• Restless leg syndrome
• Paget’s disease
• Familial Alzheimer’s disease
• Duchenne muscular dystrophy