Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations

Pediatric Nephrology

Volumn 24, Issue 8, 2009, Pages 1569-1572

  Bouba, Ioanna ^a   Siomou, Ekaterini ^b   Stefanidis, Constantinos J ^c   Emmanouilidou, Anastasia ^a   Galidi, Anna ^a   Hatzi, Elissavet ^a   Markoula, Sofia ^a   Mitsioni, Andromachi ^c   Siamopoulou, Antigoni ^b   Georgiou, Ioannis ^a  

^a UNIVERSITY OF IOANNINA   (Greece)

^b UNIVERSITY HOSPITAL OF IOANNINA   (Greece)

^c P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

Author keywords

Children; Congenital anomalies of the kidney and urinary tract; HOXA11 HOXD11 genes; Multicystic dysplastic kidney; Renal hypodysplasia; Unilateral renal agenesis

Indexed keywords

GENOMIC DNA; SUCCIMER TC 99M; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HOXA11; TRANSCRIPTION FACTOR HOXD11; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; DNA DETERMINATION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFANT; KIDNEY DYSPLASIA; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; MULTICYSTIC DYSPLASTIC KIDNEY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOLITARY KIDNEY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; KIDNEY; MALE; MUTATION;

EID: 67649388052     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1140-y     Document Type: Article

References (16)

1. Woolf AS, Winyard PJ (2002) Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations. Pediatr Dev Pathol 5:108-129
2. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study. J Am Soc Nephrol 17:2864-2670
3. Mark M, Rijli FM, Chambon P (1997) Homeobox genes in embryogenesis and pathogenesis. Pediatr Res 42:421-429
4. Small KM, Potter SS (1993) Homeotic transformations and limb defects in Hox A11 mutant mice. Genes Dev 7:2318-2328
5. Davis AP, Capecchi MR (1994) Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11. Development 120:2187-2198
6. Davis AP, Witte DP, Hsieh-Li HM, Potter SS, Capecchi MR (1995) Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11. Nature 375:791-795
7. Avni FE, Hall M (2004) Diagnostic imaging. In: Avner ED, Harmon WE, Niaudet P (eds) Pediatric nephrology. Lippincott Williams & Wilkins, Philadelphia, pp 449-473
8. Patterson LT, Potter SS (2004) Atlas of Hox gene expression in the developing kidney. Dev Dyn 229:771-779
9. Di-Poï N, Zákány J, Duboule D (2007) Distinct roles and regulations for Hoxd genes in metanephric kidney development. PloS Genet 3:e232
10. Patterson LT, Pembaur M, Potter SS (2001) Hoxa11 and Hoxd11 regulate branching morphogenesis of the ureteric bud in the developing kidney. Development 128:2153-2161
11. Hayashi K (1991) PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA. PCR Method Appl 1:34-38
12. Forrest S, Cotton R, Landegren U, Southern E (1995) How to find all those mutations. Nat Genet 10:375-376
13. Rinn J, Kertesz M, Wang JK, Squazzo SL, Xu X, Brugmann SA, Goodnough H, Helms JA, Farnham PJ, Segal E, Chang HY (2007) Functional demarcation of active and silent chromatin domains in human HOX loci by non-coding RNAs. Cell 129:1311-1323
14. Thompson AA, Nguyen LT (2000) Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 26:397-398
15. Mortlock DP, Innis JW (1997) Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15:179-180
16. Gilbert T, Merlet-Bénichou C (2000) Retinoids and nephrons mass control. Pediatr Nephrol 14:1137-1144