Endocrine abnormalities in townes–brocks syndrome. Issue 9 (25th July 2013)

• Record Type: Journal Article
• Authors: Lawrence, Cara; Hong‐McAtee, Irene; Hall, Bryan; Hartsfield, James; Rutherford, Andrew; Bonilla, Tracy; Bay, Carolyn
• Is Part Of: American journal of medical genetics. Volume 161:Issue 9(2013:Sep.)
• Page Start: 2266
• Page End: 2273
• Publication Date: 2013-07-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36104
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36104-sec-0001" sec-type="section"> <p>Townes–Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the <italic>SALL1</italic> gene located on chromosome 16q12.1. Only three known cases of Townes–Brocks syndrome with proven <italic>SALL1</italic> 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 <italic>SALL1</italic> 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.</p> </sec> </abstract>