Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

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.

Síndrome de Townes-Brocks, depresión y adicción a inhalantes: a propósito de un caso / Townes-Brocks syndrome (TBS), major depression and inhalant addiction: a case report

El síndrome de Townes-Brocks (TBS) es un trastorno autosómico dominante con múltiples malformaciones y de expresión variable. Presentamos el caso de una mujer de 22 años de edad con malformaciones en el oído externo, ano imperforado, riñones en herradura, desviación cubital del pulgar, sindactilia en los dedos de ambos pies, estrabismo, útero bicorne y retardo mental; quien desarrolló distimia, depresión mayor y adicción a inhalantes.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. We present a case of a 22-year-old woman with external ear malformations, imperforate anus, renal fusion, ulnar deviation of the thumbs, syndactyly in toes, strabismus, uterus bicornis and mental retardation who developed dysthymia, major depression and inhalant addiction.

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene / 소아과

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.