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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.


Genetic Disorders Associated with Founder Variants Common in the Finnish Population

Proportion of Pathogenic
Variants in This Gene (Carrier
Frequency for AR Disorders)
References 1
Amyloidosis, Finnish type (OMIM 105120)ADGSNc.640G>Ap.Asp214Asn100%FinnishNM_000177.4
Paunio et al [1992]
APECED (OMIM 240300)ARAIREc.769C>Tp.Arg257Ter83%FinnishNM_000383.3
Nagamine et al [1997]
Argininosuccinate lyase deficiencyARASLc.1153C>Tp.Arg385Cys60%FinnishNM_001024943.1
Keskinen et al [2008]
Aspartylglucosaminuria (OMIM 208400)ARAGAc.488G>Cp.Cys163Ser98%FinnishNM_000027.3
Syvänen et al [1992]
Ataxia neuropathy spectrum (see POLG-Related Disorders)ARPOLGc.2243G>Cp.Trp748Ser100%
Hakonen et al [2005]
Mykkänen et al [2004]
Cartilage hair hypoplasiaARRMRPg.70A>G--92%FinnishNG_017041.1Thiel et al [2007]
CLN1 disease (OMIM 256730)ARPPT1c.364A>Tp.Arg122Trp98%
Vesa et al [1995]
CLN3 disease (OMIM 204200)ARCLN3c.461-280_677+382delp.Gly154AlafsTer2990%
International Batten Disease Consortium [1995]
CLN5 disease (OMIM 256731)ARCLN5c.1175_1176delATp.Tyr392Ter94%
(Southern Ostrobothnia)
Savukoski et al [1998]
CLN8 disease (OMIM 600143)ARCLN8c.70C>Gp.Arg24Gly100%
Ranta et al [1999]
Cohen syndromeARVPS13Bc.3348_3349delCTp.Cys1117PhefsTer875%FinnishNM_017890.4
Kolehmainen et al [2003]
Congenital lactase deficiency (OMIM 223000)ARLCTc.4170T>Ap.Tyr1390Ter92%FinnishNM_002299.3
Kuokkanen et al [2006]
Congenital secretory diarrhea, chloride type (OMIM 214700)ARSLC26A3c.951_953delGGTp.Val318del100%FinnishNM_000111.2
Höglund et al [1996]
Cornea plana 2 (OMIM 217300)ARKERAc.740A>Gp.Asn247Ser100%FinnishNM_007035.3
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
Ollila et al [2017]
Familial hypercholesterolemiaADLDLRg.39215_47749del8535--80%FinnishNG_009060.1Lahtinen et al [2015]
Familial hyperinsulinismARABCC8c.560T>Ap.Val187Asp~70%FinnishNM_000352.4
Otonkoski et al [1999]
ADABCC8c.4516G>Ap.Glu1506Lys~30%Huopio et al [2000]
Glycine encephalopathy (see Nonketotic Hyperglycinemia)ARGLDCc.1691G>Tp.Ser564Ile70%Finland
Kure et al [1999]
GRACILE syndrome (OMIM 603358)ARBCS1Lc.232A>Gp.Ser78Gly100%
Visapää et al [2002]
Gyrate atrophy of the choroid and retina (OMIM 258870)AROATc.1205T>Cp.Leu402Pro~80%-90%FinnishNM_000274.3
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%
Finland (Western < Central & Eastern)NM_145014.2
Mee et al [2005]
Infantile-onset spinocerebellar ataxiaARTWNKc.1523A>Gp.Tyr508Cys~97%
(Eastern, Pirkanmaa county)
Nikali et al [2005]
Late-onset spinal motor neuronopathy (see CHCHD10-Related Disorders)ADCHCHD10c.197G>Tp.Gly66Val100%FinnishNM_001301339.1
Penttilä et al [2015]
Lethal arthrogryposis with anterior horn cell disease (OMIM 611890)ARGLE1c.433-10A>G--50%
Finland (NE)NM_001003722.1Nousiainen et al [2008]
Lethal congenital contracture syndrome (OMIM 253310)ARGLE1c.433-10A>G--~99%
Finland (NE)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationARDARS2c.228-21_228-20delTTinsC--~50%
FinnishNM_108122.4Isohanni et al [2010]
Lynch syndromeADMLH1c.1731+2247_1897-402del
(deletion of exon 16)
--~50%FinnishNM_000249.3Nyström-Lahti et al [1995]
Lysinuric protein intoleranceARSLC7A7c.895-2A>T--~100%FinnishNM_001126106.2Torrents et al [1999]
Marinesco-Sjögren syndromeARSIL1c.506_509dupAAGA--100%
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%
FinnishNM_001080522.2Tallila et al [2008]
Megaloblastic anemia 1 (OMIM 261100)ARCUBNc.3890C>Tp.Pro1297Leu91%
Aminoff et al [1999]
Mucopolysaccharidosis type 1ARIDUAc.208C>Tp.Gln70Ter62%FinnishNM_000203.4
Bunge et al [1994]
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
Papponen et al [1999]
(Western Lapland)
Nephrosis, congenital, Finnish type (OMIM 256300)ARNPHS1c.121_122delCTp.Leu41AspfsTer5073%
Kestilä et al [1998]
Ovarian dysgenesis (OMIM 233300)ARFSHRc.566C>Tp.Ala189Val97%FinnishNM_000145.3
Aittomäki et al [1996]
PEHO syndrome (OMIM 260565)ARZNHIT3c.92C>Tp.Ser31Leu~100%
Anttonen et al [2017]
AIP-related familial isolated pituitary adenomaADAIPc.40C>Tp.Gln14Ter~85%FinnishNM_003977.2
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%
FinnishNM_004260.3Siitonen et al [2003]
Retinoschisis, X-linked juvenileXLRS1c.214G>Ap.Glu72Lys70%FinnishNM_000330.3
Huopaniemi et al [1999]
Salla disease (see Free Sialic Acid Storage Disorders)ARSLC17A5c.115C>Tp.Arg39Cys96%
Aula et al [2000]
Tibial muscular dystrophy, tardive (OMIM 600334)ADTTNc.107780_107790delA
Hackman et al [2002]
TK2-related mitochondrial DNA depletion syndrome, myopathic formARTK2c.388C>Tp.Arg130Trp~71%FinnishNM_004614.4
Götz et al [2008]
Tyrosinemia type 1ARFAHc.786G>Ap.Trp262Ter95%FinnishNM_000137.2
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
Joensuu et al [2001]
Welander distal myopathy (OMIM 604454)ADTIA1c.1150G>Ap.Glu384Lys100%FinnishNM_022173.2
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.



  • Aittomäki K, Herva R, Stenman UH, Juntunen K, Ylöstalo P, Hovatta O, de la Chapelle A. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocr Metab. 1996;81:3722–6. [PubMed: 8855829]
  • Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet. 1999;21:309–13. [PubMed: 10080186]
  • Anttonen AK, Laari A, Kousi M, Yang YJ, Jaaskelainen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lonnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain. 2017;140:1267–79. [PubMed: 28335020]
  • Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005;37:1309–11. [PubMed: 16282978]
  • Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet. 2000;67:832–40. [PMC free article: PMC1287888] [PubMed: 10947946]
  • Avela K, Lipsanen-Nyman M, Idanheimo N, Seemanova E, Rosengren S, Makela TP, Perheentupa J, de la Chapelle A, Lehesjoki AE. Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. Nature Genet. 2000;25:298–301. [PubMed: 10888877]
  • Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet. 1994;3:861–6. [PubMed: 7951228]
  • Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004;41:e115. [PMC free article: PMC1735594] [PubMed: 15466003]
  • Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, Kallioniemi A, Pylkas K, Karppinen S-M, Rapakko K, Miron A, Sheng Q, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007;446:316–9. [PubMed: 17287723]
  • Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Thymidine kinase 3 defects can cause multi-tissue mtDNA depletion syndrome. Brain. 2008;131:2841–50. [PubMed: 18819985]
  • Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol. 2013;73:500–9. [PubMed: 23401021]
  • Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, de Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71:492–500. [PMC free article: PMC379188] [PubMed: 12145747]
  • Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamäki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005;77:430–41. [PMC free article: PMC1226208] [PubMed: 16080118]
  • Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999;7:664–70. [PubMed: 10482955]
  • Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996;14:316–9. [PubMed: 8896562]
  • Huopaniemi L, Fellman J, Rantala A, Eriksson A, Forsius H, de la Chapelle A, Alitalo T. Skewed secondary sex ratio in the offspring of carriers of the 214G-A mutation of the RS1 gene. Ann Hum Genet. 1999;63:521–33. [PubMed: 11246454]
  • Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest. 2000;106:897–906. [PMC free article: PMC381424] [PubMed: 11018078]
  • International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell. 1995;82:949–57. [PubMed: 7553855]
  • Isohanni P, Linnankivi T, Buzkova J, Lonnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttila T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis. J Med Genet. 2010;47:66–70. [PubMed: 19592391]
  • Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet. 2001;69:673–84. [PMC free article: PMC1226054] [PubMed: 11524702]
  • Keskinen P, Siitonen A, Salo M. Hereditary urea cycle diseases in Finland. Acta Paediatr. 2008;97:1412–9. [PubMed: 18616627]
  • Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Molec Cell. 1998;1:575–82. [PubMed: 9660941]
  • Kolehmainen J, Black GCM, Saarinen A, Chandler K, Clayton-Smith J, Traskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003;72:1359–69. [PMC free article: PMC1180298] [PubMed: 12730828]
  • Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am J Hum Genet. 2006;78:339–44. [PMC free article: PMC1380240] [PubMed: 16400612]
  • Kure S, Takayanagi M, Kurihara Y, Leisti J, Zalai D, Chuck G, Tada K, Matsubara Y, Narisawa K. Nonketotic hyperglycinemia: mutation spectra of the GLDC and AMT genes in Finnish and non-Finnish populations. Am J Hum Genet. 1999;65:A2406.
  • Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nature Genet. 2006;38:155–7. [PubMed: 16415886]
  • Lahtinen AM, Havulinna AS, Jula A, Salomaa V, Kontula K. Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population. Atherosclerosis. 2015;238:64–9. [PubMed: 25437892]
  • Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L. Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum Mol Genet. 2005;14:1475–88. [PubMed: 15843405]
  • Mitchell GA, Brody LC, Sipila I, Looney JE, Wong C, Engelhardt JF, Patel AS, Steel G, Obie C, Kaiser-Kupfer M. At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Proc Natl Acad Sci U S A. 1989;86:197–201. [PMC free article: PMC286431] [PubMed: 2492100]
  • Mykkänen K, Savontaus ML, Juvonen V, Sistonen P, Tuisku S, Tuominen S, Penttinen M, Lundkvist J, Viitanen M, Kalimo H, Pöyhönen M. Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet. 2004;12:813–9. [PubMed: 15378071]
  • Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Positional cloning of the APECED gene. Nat Genet. 1997;17:393–8. [PubMed: 9398839]
  • Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005;14:2981–90. [PubMed: 16135556]
  • Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008;40:155–7. [PMC free article: PMC2684619] [PubMed: 18204449]
  • Nyström-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, de la Chapelle A, Peltomaki P. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nature Med. 1995;1:1203–6. [PubMed: 7584997]
  • Ollila L, Nikus K, Holmström M, Jalanko M, Jurkko R, Kaartinen M, Koskenvuo J, Kuusisto J, Kärkkäinen S, Palojoki E, Reissell E, Piirilä P, Heliö T. Clinical disease presentation and ECG characteristics of LMNA mutation carriers. Open Heart. 2017;4:e000474. [PMC free article: PMC5255551] [PubMed: 28123761]
  • Otonkoski T, Ammala C, Huopio H, Cote GJ, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, Thomas PM. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes. 1999;48:408–15. [PubMed: 10334322]
  • Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker AB, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet. 2000;25:357–61. [PubMed: 10888890]
  • Papponen H, Toppinen T, Baumann P, Myllylä V, Leisti J, Kuivaniemi H, Tromp G, Myllylä R. Founder mutations and the high prevalence of myotonia congenita in northern Finland. Neurology. 1999;53:297–302. [PubMed: 10430417]
  • Paunio T, Kiuru S, Hongell V, Mustonen E, Syvänen AC, Bengström M, Palo J, Peltonen L. Solid-phase minisequencing test reveals Asp187----Asn (G654-A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. Genomics. 1992;13:237–9. [PubMed: 1315718]
  • Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet. 2000;25:91–5. [PubMed: 10802664]
  • Penttilä S, Jokela M, Bouquin H, Saukkonen AM, Toivanen J, Udd B. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol. 2015;77:163–72. [PubMed: 25428574]
  • Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, de Fatima Bonaldo M, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nature Genet. 1999;23:233–6. [PubMed: 10508524]
  • Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet. 1998;19:286–8. [PubMed: 9662406]
  • Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Molec Genet. 2003;12:2837–44. [PubMed: 12952869]
  • St-Louis M, Poudrier J, Tanguay RM. Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation. Hum Mutat. 1996;7:379–80. (Letter) [PubMed: 8723698]
  • Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics. 1992;12:590–5. [PubMed: 1559710]
  • Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008;82:1361–7. [PMC free article: PMC2427307] [PubMed: 18513680]
  • Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007;81:519–29. [PMC free article: PMC1950841] [PubMed: 17701897]
  • Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacín M. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–6. [PubMed: 10080182]
  • Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995;376:584–7. [PubMed: 7637805]
  • Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gündogdu S, De Menis E, Mäkinen MJ, Launonen V, Karhu A, Aaltonen LA. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312:1228–30. [PubMed: 16728643]
  • Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki A-E. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet. 1997;15:393–6. [PubMed: 9090386]
  • Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002;71:863–76. [PMC free article: PMC378542] [PubMed: 12215968]
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