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Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Finnish Population

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A founder variant is a pathogenic variant observed in high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.

The table below includes common founder variants — here defined as three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry — in individuals of Finnish ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.

Table.

Genetic Disorders Associated with Founder Variants Common in the Finnish Population

DisorderMOIGeneDNA
Nucleotide
Change
Predicted
Protein
Change
Proportion of Pathogenic
Variants in This Gene (Carrier
Frequency for AR Disorders)
Ethnicity
(Specific
Region)
Reference
Sequences
References 1
Amyloidosis, Finnish type (OMIM 105120)ADGSNc.640G>Ap.Asp214Asn100%FinnishNM_000177.4
NP_000168.1
Paunio et al [1992]
APECED (OMIM 240300)ARAIREc.769C>Tp.Arg257Ter83%FinnishNM_000383.3
NP_000374.1
Nagamine et al [1997]
Argininosuccinate lyase deficiencyARASLc.1153C>Tp.Arg385Cys60%FinnishNM_001024943.1
NP_001020114.1
Keskinen et al [2008]
Aspartylglucosaminuria (OMIM 208400)ARAGAc.488G>Cp.Cys163Ser98%FinnishNM_000027.3
NP_000018.2
Syvänen et al [1992]
Ataxia neuropathy spectrum (see POLG-Related Disorders)ARPOLGc.2243G>Cp.Trp748Ser100%
(0.8%)
FinnishNM_002693.2
NP_002684.1
Hakonen et al [2005]
CADASILADNOTCH3c.397C>Tp.Arg133Cys86%FinnishNM_000435.2
NP_000426.2
Mykkänen et al [2004]
Cartilage hair hypoplasiaARRMRPg.70A>G--92%FinnishNG_017041.1Thiel et al [2007]
CLN1 disease (OMIM 256730)ARPPT1c.364A>Tp.Arg122Trp98%
(1.4%)
FinnishNM_000310.3
NP_000301.1
Vesa et al [1995]
CLN3 disease (OMIM 204200)ARCLN3c.461-280_677+382delp.Gly154AlafsTer2990%
(~1.4%)
FinnishNM_001042432.1
NP_001035897.1
International Batten Disease Consortium [1995]
CLN5 disease (OMIM 256731)ARCLN5c.1175_1176delATp.Tyr392Ter94%
(1%-4%)
Finnish
(Southern Ostrobothnia)
NM_006493.2
NP_006484.1
Savukoski et al [1998]
CLN8 disease (OMIM 600143)ARCLN8c.70C>Gp.Arg24Gly100%
(0.7%)
Finnish
(Kainuu)
NM_018941.3
NP_061764.2
Ranta et al [1999]
Cohen syndromeARVPS13Bc.3348_3349delCTp.Cys1117PhefsTer875%FinnishNM_017890.4
NP_060360.3
Kolehmainen et al [2003]
Congenital lactase deficiency (OMIM 223000)ARLCTc.4170T>Ap.Tyr1390Ter92%FinnishNM_002299.3
NP_002290.2
Kuokkanen et al [2006]
Congenital secretory diarrhea, chloride type (OMIM 214700)ARSLC26A3c.951_953delGGTp.Val318del100%FinnishNM_000111.2
NP_000102.1
Höglund et al [1996]
Cornea plana 2 (OMIM 217300)ARKERAc.740A>Gp.Asn247Ser100%FinnishNM_007035.3
NP_008966.1
Pellegata et al [2000]
Diastrophic dysplasiaARSLC26A2c.-26+2T>C--~90%FinnishNM_000112.3Hästbacka et al [1999]
Dilated cardiomyopathyADLMNAc.427T>Cp.Ser143Pro~56%FinnishNM_170707.3
NP_733821.1
Ollila et al [2017]
Familial hypercholesterolemiaADLDLRg.39215_47749del8535--80%FinnishNG_009060.1Lahtinen et al [2015]
c.925_931delCCCATCAp.Pro309LysfsTer59NM_000527.4
NP_000518.1
c.1784G>Ap.Arg595GlnNM_000527.4
NP_000518.1
Familial hyperinsulinismARABCC8c.560T>Ap.Val187Asp~70%FinnishNM_000352.4
NP_000343.2
Otonkoski et al [1999]
ADABCC8c.4516G>Ap.Glu1506Lys~30%Huopio et al [2000]
Glycine encephalopathy (see Nonketotic Hyperglycinemia)ARGLDCc.1691G>Tp.Ser564Ile70%Finland
(Northern)
NM_000170.2
NP_000161.2
Kure et al [1999]
GRACILE syndrome (OMIM 603358)ARBCS1Lc.232A>Gp.Ser78Gly100%
(0.2%)
FinnishNM_001257342.1
NP_001244271.1
Visapää et al [2002]
Gyrate atrophy of the choroid and retina (OMIM 258870)AROATc.1205T>Cp.Leu402Pro~80%-90%FinnishNM_000274.3
NP_000265.1
Mitchell et al [1989]
Hereditary breast cancer (OMIM 610355)ADPALB2c.1592delT--~100%FinnishNM_024675.3Erkko et al [2007]
Hydrolethalus syndrome type 1 (OMIM 236680)ARHYLS1c.632A>Gp.Asp211Gly~100%
(1%-2.5%)
Finland (Western < Central & Eastern)NM_145014.2
NP_659451.1
Mee et al [2005]
Infantile-onset spinocerebellar ataxiaARTWNKc.1523A>Gp.Tyr508Cys~97%
(0.4%-2.4%)
Finnish
(Eastern, Pirkanmaa county)
NM_021830.4
NP_068602.2
Nikali et al [2005]
Late-onset spinal motor neuronopathy (see CHCHD10-Related Disorders)ADCHCHD10c.197G>Tp.Gly66Val100%FinnishNM_001301339.1
NP_001288268.1
Penttilä et al [2015]
Lethal arthrogryposis with anterior horn cell disease (OMIM 611890)ARGLE1c.433-10A>G--50%
(1%-2%)
Finland (NE)NM_001003722.1Nousiainen et al [2008]
Lethal congenital contracture syndrome (OMIM 253310)ARGLE1c.433-10A>G--~99%
(1%-2%)
Finland (NE)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationARDARS2c.228-21_228-20delTTinsC--~50%
(1%)
FinnishNM_108122.4Isohanni et al [2010]
Lynch syndromeADMLH1c.1731+2247_1897-402del
(deletion of exon 16)
--~50%FinnishNM_000249.3Nyström-Lahti et al [1995]
ADMLH1c.454-1G>A--~20%Finnish
Lysinuric protein intoleranceARSLC7A7c.895-2A>T--~100%FinnishNM_001126106.2Torrents et al [1999]
Marinesco-Sjögren syndromeARSIL1c.506_509dupAAGA--100%
(~1%)
FinnishNM_022464.4Anttonen et al [2005]
Meckel syndrome, type 1 (OMIM 249000)ARMKS1c.1408-35_1408-7del29--~70%FinnishNM_017777.3Kyttälä et al [2006]
Meckel syndrome, type 6 (OMIM 612284)ARCC2D2Ac.1762C>T--~100%
(0.5%)
FinnishNM_001080522.2Tallila et al [2008]
Megaloblastic anemia 1 (OMIM 261100)ARCUBNc.3890C>Tp.Pro1297Leu91%
(0.6%)
FinnishNM_001081.3
NP_001072.2
Aminoff et al [1999]
Mucopolysaccharidosis type 1ARIDUAc.208C>Tp.Gln70Ter62%FinnishNM_000203.4
NP_000194.2
Bunge et al [1994]
c.1205G>Ap.Trp402Ter19%Finnish
Mulibrey nanism (OMIM 253250)ARTRIM37c.493-2A>G--98%FinnishNM_015294.3Avela et al [2000]
Muscular dystrophy-dystroglycanopathy, type A,3 (OMIM 253280)ARPOMGNT1c.1539+1G>A--97%FinnishNM_017739.3Diesen et al [2004]
Myotonia congenitaARCLCN1c.1238T>Gp.Phe413Cys41%Finnish
(Northern)
NM_000083.2
NP_000074.2
Papponen et al [1999]
c.1592C>Tp.Ala531Val18%Finnish
(Western Lapland)
c.2680C>Tp.Arg894Ter41%Finnish
(Northern)
Nephrosis, congenital, Finnish type (OMIM 256300)ARNPHS1c.121_122delCTp.Leu41AspfsTer5073%
(1.2%)
FinnishNM_004646.3
NP_004637.1
Kestilä et al [1998]
c.3325C>Tp.Arg1109Ter16%Finnish
Ovarian dysgenesis (OMIM 233300)ARFSHRc.566C>Tp.Ala189Val97%FinnishNM_000145.3
NP_000136.2
Aittomäki et al [1996]
PEHO syndrome (OMIM 260565)ARZNHIT3c.92C>Tp.Ser31Leu~100%
(0.9%)
FinnishNM_004773.3
NP_004764.1
NM_004773.3
Anttonen et al [2017]
AIP-related familial isolated pituitary adenomaADAIPc.40C>Tp.Gln14Ter~85%FinnishNM_003977.2
NP_003968.2
Vierimaa et al [2006]
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyARTYROBPc.-2897_276+1334del
(deletion of exons 1-4)
--100%FinnishPaloneva et al [2000]
RAPADILINO (OMIM 266280)ARRECQL4c.1390+2delT--82%
(0.7%)
FinnishNM_004260.3Siitonen et al [2003]
Retinoschisis, X-linked juvenileXLRS1c.214G>Ap.Glu72Lys70%FinnishNM_000330.3
NP_000321.1
Huopaniemi et al [1999]
c.221G>Tp.Gly74Val6%
c.325G>Cp.Gly109Arg19%
Salla disease (see Free Sialic Acid Storage Disorders)ARSLC17A5c.115C>Tp.Arg39Cys96%
(1%)
Finland
(NE)
NM_012434.4
NP_036566.1
Aula et al [2000]
Tibial muscular dystrophy, tardive (OMIM 600334)ADTTNc.107780_107790delA
AGTAACATGGinsTGA
AAGAAAAA
p.Glu35927_Trp35930
delinsValLysGluLys
100%FinnishNM_001267550.1
NP_001254479.1
Hackman et al [2002]
TK2-related mitochondrial DNA depletion syndrome, myopathic formARTK2c.388C>Tp.Arg130Trp~71%FinnishNM_004614.4
NP_004605.4
Götz et al [2008]
c.547C>Tp.Arg183Trp~29%
Tyrosinemia type 1ARFAHc.786G>Ap.Trp262Ter95%FinnishNM_000137.2
NP_000128.1
St-Louis et al [1996]
Unverricht-Lundborg diseaseARCSTBg.513685_513696(30_125)
(dodecamer repeat in promoter region)
--99%FinnishNT_011515.11Virtaneva et al [1997]
Usher syndrome, type IIIA (OMIM 276902)ARCLRN1c.567T>Gp.Tyr189Ter~98%Finland (Eastern)NM_001195794.1
NP_001182723.1
Joensuu et al [2001]
Welander distal myopathy (OMIM 604454)ADTIA1c.1150G>Ap.Glu384Lys100%FinnishNM_022173.2
NP_071505.2
Hackman et al [2013]

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; NE = northeastern; XL = X-linked

Common founder variants are defined as three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not founder variants and are thus not included.

1.

References

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