Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature

Journal of Pediatric Surgery

Volumn 43, Issue 2, 2008, Pages 391-393

  Liang, Ying ^a   Shen, Dihua ^a   Cai, Wei ^a  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

SALL1 gene; Single nucleotide polymorphism; Townes Brocks syndrome

Indexed keywords

ANUS ATRESIA; ARTICLE; CASE REPORT; CODON; EXON; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MALE; PHENOTYPE; PRIORITY JOURNAL; SALL1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; DNA MUTATIONAL ANALYSIS; EAR, EXTERNAL; FOLLOW-UP STUDIES; FORMS AND RECORDS CONTROL; GENETIC CODE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; POLYDACTYLY; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 38949171387     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.09.079     Document Type: Article

References (19)

1. Townes P.L., and Brocks E.R. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 81 (1972) 321-326
2. O'Callaghan M., and Young I.D. The Townes-Brocks syndrome. J Med Genet 27 (1990) 457-461
3. Cameron T.H., Lachiewicz A.M., and Aylsworth A.S. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 41 (1991) 1-4
4. Serville F., Lacombe D., Saura R., et al. Townes-Brocks syndrome in an infant with translocation t (5;16). Genet Couns 4 (1993) 109-112
5. Powell C.M., and Michaelis R.C. Townes-Brocks syndrome. J Med Genet 36 (1999) 89-93
6. Salerno A., Kohlhase J., and Kaplan B.S. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. Pediatr Nephrol 14 (2000) 25-28
7. Surka W.S., Kohlhase J., Neunert C.E., et al. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. Am J Med Genet 102 (2001) 250-257
8. Kohlhase J., Liebers M., Backe J., et al. High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. J Med Genet 40 (2003) e127
9. Kohlhase J., Wischermann A., Reichenbach H., et al. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18 (1998) 81-83
10. Kohlhase J., Taschner P.E., Burfeind P., et al. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 64 (1999) 435-445
11. Marlin S., Blanchard S., Slim R., et al. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. Hum Mutat 14 (1999) 377-386
12. Kohlhase J., Schuh R., Dowe G., et al. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics 38 (1996) 291-298
13. Kiefer S.M., Ohlemiller K.K., Yang J., et al. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet 12 (2003) 2221-2227
14. Botzenhart E.M., Green A., Ilyina H., et al. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat 26 (2005) 282-290
15. Botzenhart E.M., Bartalini G., Blair E., et al. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat 28 (2007) 204-205
16. Blanck C., Kohlhase J., Engels S., et al. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. J Med Genet 37 (2000) 303-307
17. Netzer C., Rieger L., and Brero A. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. Hum Mol Genet 10 (2001) 3017-3024
18. Netzer C., Bohlander S.K., Hinzke M., et al. Defining the heterochromatin localization and repression domains of SALL1. Biochim Biophys Acta 1762 (2006) 386-391
19. Suh Y., and Vijg J. SNP discovery in associating genetic variation with human disease phenotypes. Mutat Res 573 (2005) 41-53