Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

American Journal of Human Genetics

Volumn 80, Issue 3, 2007, Pages 539-549

  Sanna Cherchi, Simone ^a,c   Caridi, Gianluca ^d   Weng, Patricia L ^a,b   Dagnino, Monica ^d   Seri, Marco ^d   Konka, Anita ^a   Somenzi, Danio ^c   Carrea, Alba ^d   Izzi, Claudia ^e   Casu, Domenica ^f   Allegri, Landino ^c   Schmidt Ott, Kai M ^a   Barasch, Jonathan ^a   Scolari, Francesco ^e   Ravazzolo, Roberto ^d   Ghiggeri, Gian Marco ^d   Gharavi, Ali G ^a  

^a Columbia University College of Physician and Surgeons ^*  (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PARMA   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY OF BRESCIA   (Italy)

^f Hospital of Alghero   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 1P; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; GENE LOCATION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MODEL; GENETIC TRANSCRIPTION; GENOME ANALYSIS; GENOTYPE; HUMAN; KIDNEY FAILURE; KIDNEY HYPODYSPLASIA; KIDNEY MALFORMATION; MALE; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM; SOLITARY KIDNEY; ULTRASOUND; URETER; URETER MALFORMATION; URINARY TRACT MALFORMATION;

MURINAE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; KIDNEY; LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; PENETRANCE; URETERAL DISEASES;

EID: 33847179529     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/512248     Document Type: Article

References (50)

1. Hughson M, Farris AB 3rd, Douglas-Denton R, Hoy WE, Bertram JF (2003) Glomerular number and size in autopsy kidneys: the relationship to birth weight. Kidney Int 63:2113-2122
2. Hughson MD, Douglas-Denton R, Bertram JF, Hoy WE (2006) Hypertension, glomerular number, and birth weight in African Americans and white subjects in the southeastern United States. Kidney Int 69:671-678
3. Hiraoka M, Tsukahara H, Ohshima Y, Kasuga K, Ishihara Y, Mayumi M (2002) Renal aplasia is the predominant cause of congenital solitary kidneys. Kidney Int 61:1840-1844
4. Helin I, Persson PH (1986) Prenatal diagnosis of urinary tract abnormalities by ultrasound. Pediatrics 78:879-883
5. US Renal Data System (2005) USRDS 2005 annual data report: atlas of end-stage renal disease in the United States. National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD
6. Ardissino G, Dacco V, Testa S, Bonaudo R, Claris-Appiani A, Taioli E, Marra G, Edefonti A, Sereni F (2003) Epidemiology of chronic renal failure in children: data from the ItalKid project. Pediatrics 111:e382-e387
7. Stroup NE, Edmonds L, O'Brien TR (1990) Renal agenesis and dysgenesis: are they increasing? Teratology 42:383-395
8. Woolf AS, Price KL, Scambler PJ, Winyard PJ (2004) Evolving concepts in human renal dysplasia. J Am Soc Nephrol 15:998-1007
9. Roodhooft AM, Birnholz JC, Holmes LB (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341-1345
10. McPherson E, Carey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH (1987) Dominantly inherited renal adysplasia. Am J Med Genet 26:863-872
11. Carter CO, Evans K, Pescia G (1979) A family study of renal agenesis. J Med Genet 16:176-188
12. Mackie GG, Stephens FD (1975) Duplex kidneys: a correlation of renal dysplasia with position of the ureteral orifice. J Urol 114:274-280
13. Parikh CR, McCall D, Engelman C, Schrier RW (2002) Congenital renal agenesis: case-control analysis of birth characteristics. Am J Kidney Dis 39:689-694
14. Cooper WO, Hernandez-Diaz S, Arbogast PG, Dudley JA, Dyer S, Gideon PS, Hall K, Ray WA (2006) Major congenital malformations after first-trimester exposure to ACE inhibitors. N Engl J Med 354:2443-2451
15. Vize PD, Woolf AS, Bard JBL (2003) The kidney: from normal development to congenital disease. Elsevier Science, San Diego, CA
16. Grieshammer U, Le M, Plump AS, Wang F, Tessier-Lavigne M, Martin GR (2004) SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site. Dev Cell 6:709-717
17. Yu J, McMahon AP, Valerius MT (2004) Recent genetic studies of mouse kidney development. Curr Opin Genet Dev 14:550-557
18. Miyazaki Y, Oshima K, Fogo A, Ichikawa I (2003) Evidence that bone morphogenetic protein 4 has multiple biological functions during kidney and urinary tract development. Kidney Int 63:835-844
19. Durbec P, Marcos-Gutierrez CV, Kilkenny C, Grigoriou M, Wartiowaara K, Suvanto P, Smith D, Ponder B, Costantini F, Saarma M, et al (1996) GDNF signalling through the Ret receptor tyrosine kinase. Nature 381:789-793
20. Torres M, Gomez-Pardo E, Dressier GR, Gruss P (1995) Pax-2 controls multiple steps of urogenital development. Development 121:4057-4065
21. Schmidt-Ott KM, Lan D, Hirsh BJ, Barasch J (2006) Dissecting stages of mesenchymal-to-epithelial conversion during kidney development. Nephron Physiol 104:p56-p60
22. Vainio S, Lin Y (2002) Coordinating early kidney development: lessons from gene targeting. Nat Rev Genet 3:533-543
23. Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, et al (2005) De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephiol 16:2141-2149
24. Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S (2006) Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis 47:1004-1012
25. Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, et al (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 17:2864-2870
26. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschenes G, Bouissou F, Bensman A, et al (2006) Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17:497-503
27. Pasch A, Hoefele J, Grimminger H, Hacker HW, Hildebrandt F (2004) Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. Nephrol Dial Transplant 19:3172-3175
28. Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, Kim YY, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG (2005) Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 16:1781-1787
29. Dinkel E, Ertel M, Dittrich M, Peters H, Berres M, Schulte-Wissermann H (1985) Kidney size in childhood: sonographical growth charts for kidney length and volume. Pediatr Radiol 15:38-43
30. Han BK, Babcock DS (1985) Sonographic measurements and appearance of normal kidneys in children. AJR Am J Roentgenol 145:611-616
31. Cottingham RW Jr, Idury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
32. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12-13
33. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337
34. Faraway JJ (1993) Distribution of the admixture test for the detection of linkage under heterogeneity. Genet Epidemiol 10:75-83
35. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247
36. Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 86:4175-4178
37. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J (2004) Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 25:495-520
38. Kume T, Deng K, Hogan BL (2000) Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2. Mol Cell Biol 20:1419-1425
39. Schmidt-Ott KM, Yang J, Chen X, Wang H, Paragas N, Mori K, Li JY, Lu B, Costantini F, Schiffer M, et al (2005) Novel regulators of kidney development from the tips of the ureteric bud. J Am Soc Nephrol 16:1993-2002
40. Johnson RS, van Lingen B, Papaioannou VE, Spiegelman BM (1993) A null mutation at the c-jun locus causes embryonic lethality and retarded cell growth in culture. Genes Dev 7:1309-1317
41. Jijiwa M, Fukuda T, Kawai K, Nakamura A, Kurokawa K, Murakumo Y, Ichihara M, Takahashi M (2004) A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia. Mol Cell Biol 24:8026-8036
42. Mendoza-Lujambio I, Burfeind P, Dixkens C, Meinhardt A, Hoyer-Fender S, Engel W, Neesen J (2002) The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse. Hum Mol Genet 11:1647-1658
43. Tsujikawa M, Kurahashi H, Tanaka T, Nishida K, Shimomura Y, Tano Y, Nakamura Y (1999) Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat Genet 21:420-423
44. Caruana G, Cullen-McEwen L, Nelson AL, Kostoulias X, Woods K, Gardiner B, Davis MJ, Taylor DF, Teasdale RD, Grimmond SM, et al (2006) Spatial gene expression in the T-stage mouse metanephros. Gene Expr Patterns 6:807-825
45. Feather SA, Malcolm S, Woolf AS, Wright V, Blaydon D, Reid CJ, Flinter FA, Proesmans W, Devriendt K, Carter J, et al (2000) Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet 66:1420-1425
46. Angius A, Bebbere D, Petretto E, Falchi M, Forabosco P, Maestrale B, Casu G, Persico I, Melis PM, Pirastu M (2002) Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations. Hum Genet 111:9-15
47. Gianfrancesco F, Esposito T, Ombra MN, Forabosco P, Maninchedda G, Fattorini M, Casula S, Vaccargiu S, Casu G, Cardia F, et al (2003) Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. Am J Hum Genet 72:1479-1491
48. Brenner BM, Chertow GM (1994) Congenital oligonephropathy and the etiology of adult hypertension and progressive renal injury. Am J Kidney Dis 23:171-175
49. Keller G, Zimmer G, Mall G, Ritz E, Amann K (2003) Nephron number in patients with primary hypertension. N Engl J Med 348:101-108
50. Mori K, Lee HT, Rapoport D, Drexler IR, Foster K, Yang J, Schmidt-Ott KM, Chen X, Li JY, Weiss S, et al (2005) Endocytic delivery of lipocalin- siderophore-iron complex rescues the kidney from ischemia-reperfusion injury. J Clin Invest 115:610-621