A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.
Department of Pediatrics, Hanyang University School of Medicine, Seoul, Korea.
Won Ik
WI
Choi
Ji Hye
JH
Kim
Han Wook
HW
Yoo
Sung Hee
SH
Oh
Am J Med Genet. 1998 May 26;77(4):330-1
9600745
Clin Genet. 1988 Sep;34(3):195-200
3180506
Am J Med Genet. 1991 Oct 1;41(1):1-4
1951448
Eur J Pediatr. 1990 Dec;150(2):100-3
2279502
J Pediatr. 1978 Aug;93(2):270-3
671168
Nat Genet. 1998 Jan;18(1):81-3
9425907
Hum Mutat. 2005 Sep;26(3):282
16088922
Arch Pediatr. 1995 Jun;2(6):551-4
7640757
Indian Pediatr. 2007 Feb;44(2):140-2
17351307
Am J Med Genet. 1996 Jan 11;61(2):191-2
8669452
Lancet. 1968 Nov 16;2(7577):1081-2
4176889
Am J Med Genet. 1993 Nov 1;47(6):807-11
8279476
Am J Hum Genet. 1999 Feb;64(2):435-45
9973281