Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

American Journal of Human Genetics

Volumn 66, Issue 1, 2000, Pages 118-127

  Omran, Heymut ^a   Fernandez, Carmen ^b   Jung, Martin ^c   Häffner, Karsten ^a   Fargier, Bernardo ^b   Villaquiran, Aminta ^b   Waldherr, Rüdiger ^e   Gretz, Norbert ^f   Brandis, Matthias ^a   Rüschendorf, Franz ^c   Reis, André ^c,d   Hildebrandt, Friedhelm ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Hospital Universitario de Los Andes   (Venezuela)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d HUMBOLDT UNIVERSITY   (Germany)

^e Institute of Pathology   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 3Q; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENOME; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; NEPHRONOPHTHISIS; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; VENEZUELA;

EID: 0033941201     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302705     Document Type: Article

References (49)

1. Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, et al (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet 3:342-345
2. Antignac C, Kleinknecht C, Habib R (1998) Nephronophthisis. In: Cameron J (ed) Textbook of clinical nephrology. Oxford University Press, Oxford, pp 2417-2426
3. Blowey DL, Querfeld U, Geary D, Warady BA, Alon U (1996) Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol 10:22-24
4. Bodaghi E, Honarmand MT, Ahmadi M (1987) Infantile nephronophthisis. Int J Pediatr Nephrol 8:207-210
5. Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis: a family study. Q J Med 42:221-233
6. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869
7. Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, Ioannou P, et al (1998) Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 7:905-911
8. Collins A, Frezal J, Teague J, Morton NE (1996) A metric map of humans: 23,500 loci in 850 bands. Proc Natl Acad Sci USA 93:14771-14775
9. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
10. Fanconi G, Hanhart E, Albertini A, Uhlinger E, Dolivo G, Prader A (1951) Die familiäre juvenile Nephronophthise. Helv Paediatr Acta 6:1-49
11. Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth JA, Kunh JM (1976) Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. Clin Nephrol 5:14-19
12. Fivush BA, Jabs K, Neu AM, Sullivan EK, Feld L, Kohaut E, Fine R (1998) Chronic renal insufficiency in children and adolescents: the 1996 annual report of NAPRTCS. North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol 12:328-337
13. Gagnadoux MF, Bacri JL, Broyer M, Habib R (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? Pediatr Nephrol 3:50-55
14. Gardner KDJ (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla. Ann Intern Med 74: 47-54
15. Goldman SH, Walker SR, Merigan TCJ, Gardner KDJ, Bull JM (1966) Hereditary occurrence of cystic disease of the renal medulla. N Engl J Med 274:984-992
16. Grateau G, Grunfeld JP, Droz D, Noel LH (1986) Adult nephronophthisis: a single disease or 2 diseases? Nephrologie 7:104-108
17. Gretz NM (1994) How to assess the rate of progression of chronic renal failure in children? Pediatr Nephrol 8:499-504
18. Haider NB, Carmi R, Shalev H, Sheffield VC, Eandau D (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am J Hum Genet 63:1404-1410
19. Hildebrandt F (1998) Identification of a gene for nephronophthisis. Nephrol Dial Transplant 13:1334-1336
20. -(1999) Nephronophthisis. In: Avner E, Barrat T, Harmon W (eds) Pediatric nephrology. Williams & Wilkins, Baltimore, pp 453-458
21. Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, et al (1997a) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17:149-153
22. Hildebrandt F, Pohlmann A, Omran H (1993a) LODVIEW: a computer program for the graphical evaluation of lod score results in exclusion mapping of human disease genes. Comput Biomed Res 26:592-599
23. Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, et al (1993b) Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group. Am J Hum Genet 53:1256-1261
24. Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, et al (1997b) Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fur Padiatrische Nephrologie. Kidney Int 51:261-269
25. Kaplan E, Meier P (1958) Nonparametric estimation from incomplete observations. J Am Stat Assoc 53:457-481
26. Kee N, McTavish AJ, Papillon J, Cybulsky AV (1997) Receptor protein tyrosine kinases in perinatal developing rat kidney. Kidney Int 52:309-317
27. Kleinknecht C (1989) The inheritance of nephronophthisis. In: Spitzer A, Avner E (eds) Kluwer Academic, Boston, pp 277-294
28. Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, et al (1996) Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5:367-371
29. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
30. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
31. Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
32. Loken A, Hanssen O, Halvorse S, Jolster N (1961) Hereditary renal dysplasia and blindness. Acta Paediatr 50:177-184
33. Mainzer F, Saldino RM, Ozonoff MB, Minagi H (1970) Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49: 556-562
34. Meier D, Hess J (1965) Familial nephropathy with retinitis pigmentosa: a new oculo renal syndrome in adults. Am J Med 39:58-69
35. Rothberg JM, Jacobs JR, Goodman CS, Artavanis-Tsakonas S (1990) slit: an extracellular protein necessary for development of midline glia and commissural axon pathways contains both EGF and LRR domains. Genes Dev 4: 2169-2187
36. Saar K, Chrzanowska KH, Stumm M, Jung M, Nurnberg G, Wienker TF, Seemanova E, et al (1997) The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet 60:605-610
37. Sambrook J, Fritsch E, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
38. Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, et al (1997) A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 6:2317-2323
39. Schaffer AA (1996) Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 46: 226-235
40. Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, et al (1999) Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 64:1655-1660
41. Senior B, Friedmann A, Braudo J (1961) Juvenile familial nephropathy with tapetoretinal degeneration: a new oculo-renal syndrome. Am J Ophthalmol 52:625-633
42. Smith C, Graham J (1945) Congenital medullary cysts of kidneys with severe refractory anemia. Am J Dis Child 69: 369-377
43. Stacker SA, Hovens CM, Vitali A, Pritchard MA, Baker E, Sutherland GR, Wilks AF (1993) Molecular cloning and chromosomal localisation of the human homologue of a receptor related to tyrosine kinases (RYK). Oncogene 8: 1347-1356
44. Steel CM, Philipson J, Arthur E, Gardiner SE, Newton MS, McIntosh RV (1977) Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes. Nature 270:729-731
45. Steele BT, Lirenman DS, Beattie CW (1980) Nephronophthisis. Am J Med 68:531-538
46. Strauss MB, Sommers SC (1967) Medullary cystic disease and familial juvenile nephronophthisis. N Engl J Med 277: 863-864
47. Takahashi T, Shirasawa T, Miyake K, Yahagi Y, Maruyama N, Kasahara N, Kawamura T, et al (1995) Protein tyrosine kinases expressed in glomeruli and cultured glomerular cells: Flt-1 and VEGF expression in renal mesangial cells. Biochem Biophys Res Commun 209:218-226
48. Waldherr R, Lennert T, Weber HP, Fodisch HJ, Scharer K (1982) The nephronophthisis complex: a clinicopathologic study in children. Virchows Arch A Pathol Anat Histol 394: 235-254
49. Zollinger HU, Mihatsch MJ, Edefonti A, Gaboardi F, Imbasciati E, Lennert T (1980) Nephronophthisis (medullary cystic disease of the kidney): a study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta 35:509-530