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2013 ; 161A
(9
): 2266-73
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Endocrine abnormalities in Townes-Brocks syndrome
#MMPMID23894113
Lawrence C
; Hong-McAtee I
; Hall B
; Hartsfield J
; Rutherford A
; Bonilla T
; Bay C
Am J Med Genet A
2013[Sep]; 161A
(9
): 2266-73
PMID23894113
show ga
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.
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