Table 1

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

Autosomal recessive diseases
DiseaseOMIMWorldwide frequencyFrequency in SLSJCarrier rate in SLSJGeneFounder mutations in SLSJFounder allele frequency in SLSJFounder allele frequency (gnomAD)*References
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)270550N/A1/19321/22SACS
  • c.8844del (p.Ile2949fs)

0.926610−519 25 28
  • c.7504C>T (p.Arg2502X)

0.03710−5
Agenesis of corpus callosum and peripheral neuropathy (ACCPN)218000N/A1/21171/23SLC12A6
  • c.2436delG (p.Thr813Profs)

0.99310−531 32
  • c.1584-1585delCTinsG (Phe529fsX531)

N/AN/A
Leigh syndrome, French-Canadian type (LSFC)2201111/40 0001/20001/23LRPPRC
  • c.1061C>T (p.Ala354Val)

0.99510−510 35
Tyrosinemia type I (TYRSN1)2767001/120 0001/18461/20FAH
  • c.1062 5G>A (IVS12+5G+A)

0.9310−438 39
Cystic fibrosis (CF)2197001/20001/9021/15CFTR
  • c.1521-1523delCT (p.Phe508del)

N/A710−349 51
  • c.489+1G>T (621+1G>T)

N/A610−5
  • c.1364C>A (p.Arg347Pro)

N/A210−5
Mucolipidosis
(I-cell disease)
252500N/A1/61841/39GNPTAB
  • c.3503_3504delTC (p.Leu1168Glnfs)

N/A410−44 64
Vitamin D–dependent rickets type 1 (VDDR1)264700N/A1/29161/27CYP27B1
  • c.262delG (p.Val88Trpfs)

N/A310−576 77
  • c.958delG (frameshift after 87Tyr)

N/AN/A
Familial dysbetalipoproteinemia (type III hyperlipoproteinemia)6173471/50001/10001/7APOE
  • Apo E2 allele

N/AN/A81–84
Lipoprotein lipase deficiency (LPLD)2386001–2/
1 000 000
1/50001/40LPL
  • c.644G>A (p.Gly215Glu)

N/A10−487 160
  • c.701C>T (p.Pro234Leu)

N/A410−5
  • c.829G>A (p.Asp277Asn)

N/A210−5
Cystinosis2198000.5–1.0/100 0001/11 9391/39CTNS
  • c. 414G>A (p.Trp138X)

N/A410−54
Zellweger syndrome (ZS)601539N/A1/12 1911/55PEX6
  • c.802_815del (p.Asp268fs)

N/A10−56 11
Naxos disease (NXD)601214N/AN/AN/AJUP
  • c.902A>G (p.Glu301Gly)

N/A10−5146 147
Autosomal dominant diseases
Myotonic dystrophy type 1 (DM1)1609002.1–14.3/100 000158/100 000-
DMPK
  • (CTG) repeat expansion

N/AN/A12 98
Familial hypercholesterolaemia (FH)143890Heterozygous
1/250
Homozygous
1/300 000
Heterozygous
1/120
-LDLR
  • prom_e1 deletion >15 kb

N/AN/A81 108 110 161
  • c.259T>G (p.Trp87Gly)

N/A210−5
  • c.2000G>A (p.Cys667Tyr)

N/A310−6
  • c.1467C>G (p.Tyr489Ter)

N/A310−6
Epidermolysis bullosa simplex (EBS)131760
131900
131800
6–30/100 000N/A-KRT5
KRT14
KRT5 :151 152
  • c.74C>T (p.Pro25Leu)

N/AN/A
  • c.449C>T (p.Leu150Pro)

N/AN/A
KRT14:
  • c.1130T>C (p.Ileu377Thr)

N/AN/A