title: Endocrine abnormalities in Townes-Brocks syndrome.
abstract: 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.
authors.affiliation: College of Medicine, University of Kentucky, Lexington, Kentucky 40536, USA.
authors.forename: Cara
authors.initials: C
authors.lastname: Lawrence
authors.forename: Irene
authors.initials: I
authors.lastname: Hong-McAtee
authors.forename: Bryan
authors.initials: B
authors.lastname: Hall
authors.forename: James
authors.initials: J
authors.lastname: Hartsfield
authors.forename: Andrew
authors.initials: A
authors.lastname: Rutherford
authors.forename: Tracy
authors.initials: T
authors.lastname: Bonilla
authors.forename: Carolyn
authors.initials: C
authors.lastname: Bay
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D001006:Anus, Imperforate / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002675:Child, Preschool; D004703:Endocrine System / Q000378:metabolism / Q000503:physiopathology*; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D057238:Growth Charts; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010902:Pituitary Gland / Q000473:pathology; D013933:Thumb / Q000002:abnormalities* / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: C104146:SALL1 protein, human; D014157:Transcription Factors
keywords: SALL1; Townes-Brocks syndrome; endocrine abnormalities; growth hormone deficiency; hypothyroidism; preaxial polydactyly; triphalangeal thumbs
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