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

Korean J Pediatr. 2010 Dec;53(12):1018-21. doi: 10.3345/kjp.2010.53.12.1018. Epub 2010 Dec 31.


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.

Keywords: Congenital hypothyroidism; SALL1; Townes-Brocks syndrome.