Endocrine abnormalities in townes–brocks syndrome
Article first published online: 25 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2266–2273, September 2013
How to Cite
2013. Endocrine abnormalities in Townes–Brocks syndrome. Am J Med Genet Part A161A:2266–2273., , , , , , .
- Issue published online: 14 AUG 2013
- Article first published online: 25 JUL 2013
- Manuscript Accepted: 2 JUN 2013
- Manuscript Received: 28 JUN 2012
- Townes–Brocks syndrome;
- endocrine abnormalities;
- growth hormone deficiency;
- preaxial polydactyly;
- triphalangeal thumbs
Townes–Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes–Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes–Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes–Brocks syndrome. © 2013 Wiley Periodicals, Inc.