Endocrine abnormalities in townes-brocks syndrome

Cara Lawrence, Irene Hong-Mcatee, Bryan Hall, James Hartsfield, Andrew Rutherford, Tracy Bonilla, Carolyn Bay

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish
Pages (from-to)2266-2273
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
StatePublished - Sep 2013


  • Endocrine abnormalities
  • Growth hormone deficiency
  • Hypothyroidism
  • Preaxial polydactyly
  • SALL1
  • Townes-Brocks syndrome
  • Triphalangeal thumbs

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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