Surka W S, Kohlhase J, Neunert C E, Schneider D S, Proud V K
Division of Medical Genetics, Department of Pediatrics, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, USA.
Am J Med Genet. 2001 Aug 15;102(3):250-7. doi: 10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q.
Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor. Here, we report a three-generation family with seven affected individuals who have a novel SALL1 mutation. Unique cardiac anomalies seen in this family include lethal truncus arteriosus in one patient and a lethal complicated defect, including pulmonary valve atresia, in a second patient. These severe cardiac anomalies have not previously been reported in a familial case of TBS. This family and a review of the literature indicate that cardiac evaluation is warranted in all individuals with this disorder. In addition, hypoplastic thumbs were seen in two individuals in this family and should, therefore, be considered a true feature of TBS.
汤姆斯-布罗克斯综合征（TBS）是一种伴有肛门闭锁、手部畸形以及伴有感音神经性听力损失的耳部畸形的病症。许多病例为散发性。在家族内部和家族之间，该病症的表型表现出显著的变异性。最近，TBS的致病基因被确定为SALL1，一种锌指转录因子。在此，我们报告一个三代家族，其中有7名患者携带一种新的SALL1突变。该家族中出现的独特心脏异常包括一名患者患有致死性动脉干，另一名患者患有包括肺动脉瓣闭锁在内的致死性复杂缺陷。这些严重的心脏异常此前在家族性TBS病例中尚未有过报道。这个家族以及文献综述表明，所有患有这种疾病的个体都有必要进行心脏评估。此外，该家族中有两名个体出现了发育不全的拇指，因此应将其视为TBS的一个真实特征。
