Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 279-283

  Ala Mello, S ^a,b   Sankila, E M ^a,b   Koskimies, O ^a   De La Chapelle, A ^a,b,d   Kaariainen H ^c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c Vaestoliitto   (Finland)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

2q13 deletion; Familial juvenile nephronophthisis; Haplotype analysis

Indexed keywords

ARTICLE; CHROMOSOME 2Q; CLINICAL ARTICLE; FEMALE; FINLAND; FOUNDER EFFECT; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; KIDNEY FAILURE; MALE; MARKER GENE; NEPHRONOPHTHISIS; PRIORITY JOURNAL;

EID: 0031957258     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.279     Document Type: Article

References (25)

1. Fanconi G, Hanhart E, Albertini A, Uhlinger E, Dolivo G, Prader A. Die familiäre juvenile nephronophthise. Helv Paediatr Acta 1951;6:1-49.
2. Smith CH, Graham JB. Congenital medullary cysts of the kidneys with severe refractory anemia. Am J Dis Child 1945;69:370-8.
3. Strauss MB. Clinical and pathological aspects of cystic disease of the renal medulla. An analysis of eighteen cases. Ann Intern Med 1962;57:373-81.
4. Strauss MB, Sommers SC. Medullary cystic disease and familial juvenile nephronophthisis. N Engl J Med 1967;277:863-4.
5. Kleinknecht C, Habib R. Nephronophthisis. In: Cameron JC, Davison AM, Grunfeld JP, Kers KNS, Ritz E, eds. Textbook of clinical nephrology. Oxford: Oxford University Press, 1992:2188-97.
6. Waldherr R, Lennert T, Weber HP, Födisch HJ, Schärer K. The nephronophthisis complex. Virchows Arch (A) 1982;394:235-54.
7. Cohen AH, Hoyer JR. Nephronophthisis. A primary tubular basement membrane defect. Lab Invest 1986;55:564-72.
8. Rahilly MA, Fleming S. Abnormal integrin receptor expression in two cases of familial nephronophthisis. Histopathology 1995;26:345-9.
9. Senior B, Friedmann AI, Braupo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 1961;52:625-33.
10. Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr Scand 1961;50:177-84.
11. Boichis H, Passwell J, David R, Miller H. Congenital hepatic fibrosis and nephronophthisis. Q J Med 1973;42:221-33.
12. Mainzer F, Saldino RM, Ozonoff MB, Minagi H. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 1970;49:556-62.
13. Antignac C, Arduy CH, Beckmann JS, et al. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 1993;3:342-5.
14. Hildebrandt F, Singh-Sawhney I, Schnieders B, et al. Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. Am J Hum Genet 1993;53:1256-61.
15. Medhioub M, Cherif D, Benessy F, et al. Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence of genetic heterogeneity. Genomics 1994;22:296-301.
16. Hildebrandt F, Singh-Sawhney I, Schnieders B, Papenfuss T, Brandis M. Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. Genomics 1994;25:360-4.
17. Konrad M, Saunier S, Heidet L, et al. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996;5:367-71.
18. Lahiri DK, Nurnberger JJ Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444.
19. Weissenbach J, Gyapay G, Dib C, et al. Second generation genetic linkage map of the human genome. Nature 1992;359:794-801.
20. Gyapay G, Morissette J, Vignal V, et al. The 1993-1994 Généthon human genetic linkage map. Nat Genet 1994;7:246-339.
21. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6.
22. Norio R, Nevanlinna HR, Perheentupa J. Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 1973;5:109-41.
23. de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993;30:857-65.
24. Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 1992;2:204-11.
25. Hellsten E, Vesa J, Speer MC, et al. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 1993;16:720-5.