Kidney failure in Townes-Brocks syndrome: An under recognized phenomenon?

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2588-2591

  Reardon, William ^a   Casserly, Liam F ^b   Birkenhäger, Ralf ^c   Kohlhase, Jürgen ^d  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY HOSPITAL LIMERICK   (Ireland)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Kidney failure; Townes Brocks syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GOITER; HUMAN; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; SALL1 GENE; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; DNA PRIMERS; FEMALE; HAND DEFORMITIES, CONGENITAL; HEARING LOSS, SENSORINEURAL; HUMANS; KIDNEY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MIDDLE AGED; MUTATION; PHENOTYPE; RENAL DIALYSIS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 35848939629     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31699     Document Type: Article

References (18)

1. Barakat A, Butler M, Salter J, Fogo A. 1988. Townes-Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac malformations. Dysmor Clin Genet 2:104-108.
2. Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM. 2000. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. J Med Genet 37:303-307.
3. Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. 2006. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat 27:211-212.
4. Botzenhart EM, Green A, Ilyina H, Konig R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rosler B, Kohlhase J. 2005. SALL1 mutation analysis in Townes-Brocks syndrome: Twelve novel mutations and expansion of the phenotype. Hum Mutat 26:282.
5. Cameron TH, Lachiewicz AM, Aylsworth AS. 1991. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 41:1-4.
6. De Vries-Van der Weerd MA, Willems PJ, Mandema HM, ten Kate LP. 1988. A new family with the Townes-Brocks syndrome. Clin Genet 34:195-200.
7. Engels S, Kohlhase J, McGaughran J. 2000. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. J Med Genet 37:458-460.
8. Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J. 1986. Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association. Clin Pediatr 25:100-102.
9. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. 1998. Mutations in the SALL1 putative transcriptor factor gene cause Townes-Brocks syndrome. Nature Genet 18: 81-83.
10. Kohlhase J, Taschner PEM, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick S, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. 1999. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 64:435-445.
11. Morris CA, Leonard CO, Dilts C, Demsey SA. 1990. Adults with Williams syndrome. Am J Med Genet Suppl 6:102-107.
12. Newman WG, Brunet MD, Donnai D. 1997. Townes-Brocks syndrome presenting as end stage renal failure. Clin Dysmorph 6:57-60.
13. O'Callaghan M, Young ID. 1990. Townes-Brocks Syndrome. J Med Genet 27:457-461.
14. Reardon WO, Mahoney CF, Trembath R, Jan H, Phelps PD. 2000. Enlarged vestibular aqueduct: A radiological marker of Pendred syndrome and mutation of the PDS locus. Q J Med 93:99-104.
15. Rossmiller DR, Pasic TR. 1994. Hearing loss in Townes-Brocks syndrome. Otolaryngol Head Neck Surg 111:175-180.
16. Toriello HV, Reardon W, Gorlin RG. 2004. Hereditary hearing loss and its syndromes. 2nd edition. New York: Oxford University Press.
17. Townes PL, Brocks ER. 1972. Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J Pediatr 81:321-326.
18. Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl 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 17:2864-2870.