Table 1

Inherited disorders in Saguenay–Lac-Saint-Jean (SLSJ)

Autosomal recessive diseases
Disease	OMIM	Worldwide frequency	Frequency in SLSJ	Carrier rate in SLSJ	Gene	Founder mutations in SLSJ	Founder allele frequency in SLSJ	Founder allele frequency (gnomAD)**	References
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)	270550	N/A	1/1932	1/22	SACS	c.8844del (p.Ile2949fs)	0.926	610⁻⁵	19 25 28
	270550	N/A	1/1932	1/22	SACS	c.7504C>T (p.Arg2502X)	0.037	10⁻⁵	19 25 28
Agenesis of corpus callosum and peripheral neuropathy (ACCPN)	218000	N/A	1/2117	1/23	SLC12A6	c.2436delG (p.Thr813Profs)	0.99	310⁻⁵	31 32
	218000	N/A	1/2117	1/23	SLC12A6	c.1584-1585delCTinsG (Phe529fsX531)	N/A	N/A	31 32
Leigh syndrome, French-Canadian type (LSFC)	220111	1/40 000	1/2000	1/23	LRPPRC	c.1061C>T (p.Ala354Val)	0.99	510⁻⁵	10 35
Tyrosinemia type I (TYRSN1)	276700	1/120 000	1/1846	1/20	FAH	c.1062 5G>A (IVS12+5G+A)	0.9	310⁻⁴	38 39
Cystic fibrosis (CF)	219700	1/2000	1/902	1/15	CFTR	c.1521-1523delCT (p.Phe508del)	N/A	710⁻³	49 51
						c.489+1G>T (621+1G>T)	N/A	610⁻⁵
						c.1364C>A (p.Arg347Pro)	N/A	210⁻⁵
Mucolipidosis (I-cell disease)	252500	N/A	1/6184	1/39	GNPTAB	c.3503_3504delTC (p.Leu1168Glnfs)	N/A	410⁻⁴	4 64
Vitamin D–dependent rickets type 1 (VDDR1)	264700	N/A	1/2916	1/27	CYP27B1	c.262delG (p.Val88Trpfs)	N/A	310⁻⁵	76 77
Vitamin D–dependent rickets type 1 (VDDR1)	264700	N/A	1/2916	1/27	CYP27B1	c.958delG (frameshift after 87Tyr)	N/A	N/A	76 77
Familial dysbetalipoproteinemia (type III hyperlipoproteinemia)	617347	1/5000	1/1000	1/7	APOE	Apo E2 allele	N/A	N/A	81–84
Lipoprotein lipase deficiency (LPLD)	238600	1–2/ 1 000 000	1/5000	1/40	LPL	c.644G>A (p.Gly215Glu)	N/A	10⁻⁴	87 160
						c.701C>T (p.Pro234Leu)	N/A	410⁻⁵
						c.829G>A (p.Asp277Asn)	N/A	210⁻⁵
Cystinosis	219800	0.5–1.0/100 000	1/11 939	1/39	CTNS	c. 414G>A (p.Trp138X)	N/A	410⁻⁵	4
Zellweger syndrome (ZS)	601539	N/A	1/12 191	1/55	PEX6	c.802_815del (p.Asp268fs)	N/A	10⁻⁵	6 11
Naxos disease (NXD)	601214	N/A	N/A	N/A	JUP	c.902A>G (p.Glu301Gly)	N/A	10⁻⁵	147 148
*Autosomal dominant diseases*
Myotonic dystrophy type 1 (DM1)	160900	2.1–14.3/100 000	158/100 000	-	DMPK	(CTG) repeat expansion	N/A	N/A	12 98
Familial hypercholesterolaemia (FH)	143890	Heterozygous 1/250 Homozygous 1/300 000	Heterozygous 1/120	-	LDLR	prom_e1 deletion >15 kb	N/A	N/A	81 107 108 113
						c.259T>G (p.Trp87Gly)	N/A	210⁻⁵
						c.2000G>A (p.Cys667Tyr)	N/A	310⁻⁶
						c.1467C>G (p.Tyr489Ter)	N/A	310⁻⁶
Epidermolysis bullosa simplex (EBS)	131760 131900 131800	6–30/100 000	N/A	-	KRT5 KRT14	KRT5 :			152 153
						c.74C>T (p.Pro25Leu)	N/A	N/A
						c.449C>T (p.Leu150Pro)	N/A	N/A
						KRT14:
						c.1130T>C (p.Ileu377Thr)	N/A	N/A

*https://gnomad.broadinstitute.org.
-, not applicable; N/A, not available.