Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Journal of Genetic Medicine
;
: 44-48, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-18086
ABSTRACT
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Canal Anal
/
Anus Imperfurado
/
Exame Físico
/
Polegar
/
Fatores de Transcrição
/
Anormalidades do Olho
/
Características da Família
/
Polidactilia
/
Desenvolvimento Embrionário
/
Diagnóstico Diferencial
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Animais
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2015
Tipo de documento:
Artigo
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