A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene

Korean Journal of Pediatrics

Volumn 53, Issue 12, 2010, Pages 1018-1021

  Choi, Won Ik ^a   Kim, Ji Hye ^a   Yoo, Han Wook ^b   Oh, Sung Hee ^a  

^a Hanyang University   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

Congenital hypothyroidism; SALL1; Townes brocks syndrome

Indexed keywords

EID: 79951801293     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2010.53.12.1018     Document Type: Article

References (17)

1. Aylsworth AS. Anus-hand-ear syndrome. In: Buyse ML, editor. Birth defects encyclopaedia. Dover: Blackwell Scientific Publications, 1990;155.
2. Cameron TH, Lachiewicz AM, Aylsworth AS. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 1991;41:1-4.
3. Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T. Townes-Brocks syndrome associated with mental retardation. Am J Med Genet 1996; 61:191-2.
4. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998;18:81-3.
5. Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, et al. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 1999;64:435-45.
6. König R, Schick U, Fuchs S. Townes-Brocks syndrome. Eur J Pediatr 1990;150:100-3.
7. Parent P, Bensaid M, Le Guern H, Colin A, Broussine L, Chabarot A, et al. Clinical heterogeneity of Townes-Brocks syndrome. Arch Pediatr 1995;2:551-4.
8. Kurnit DM, Steele MW, Pinsky L, Dibbins A. Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 1978;93:270-3.
9. de Vries-Van der Weerd MA, Willems PJ, Mandema HM, ten Kate LP. A new family with the Townes-Brocks syndrome. Clin Genet 1988;34:195-200.
10. Yano S, Watanabe Y, Yoshino M. Townes-Brocks and Pendred syndrome in the same patient. Am J Med Genet 1998;77:330-1.
11. Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, et al. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat 2005;26:282.
12. Goswami V, Dubey NK. Townes-Brocks syndrome with hypothyroidism. Indian Pediatr 2007;44:140-2.
13. Park SY, Lee WR. Townes-Brocks syndrome associated with hypothyroidism in a Korean newborn: a case report. J Genet Med 2008;5:136-8.
14. Say B, Gerald PS. A new polydactyly/imperforate-anus/vertebralanomalies syndrome. Lancet 1968;2:688.
15. Powell CM, Chandra RS, Saal HM. PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. Am J Med Genet 1993;47:807-11.
16. Jones KL. Smith's recognizable patterns of human malformation. 5th ed. Philadelphia, PA: WB Saunders Co, 1997;430.
17. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998;18:81-3.