1. 四川大学华西医院耳鼻咽喉头颈外科,成都,610041
2. 四川大学华西医院罕见病研究院,成都,610044
3. 陆军军医大学第一附属医院医学遗传中心
纸质出版:2021
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严晓虹, 袁慧军, 赵宇. Townes-Brocks综合征基因型-表型相关性分析[J]. 中国听力语言康复科学杂志, 2021,19(3):168-174.
严晓虹, 袁慧军, 赵宇. Genotype-Phenotype Correlation Analysis of Townes-Brocks Syndrome[J]. 2021, 19(3): 168-174.
Townes-Brocks综合征(townes-brocks syndrome
TBS)[MIM:107480]是常染色体显性遗传的罕见病
可导致外耳畸形、听力损失、肛门闭锁和拇指畸形等多系统异常。SALL1基因(spalt like transcription factor 1)[MIM:602218]的致病性突变是导致TBS的最主要原因
可以通过单倍剂量不足和显性负效应等机制致病
但该病的基因型-表型相关性尚不明确。因此
本文回顾了截止2021年1月报道的所有携带SALL1致病性变异的Townes-Brocks综合征的病例
总结了该病的表型与SALL1基因突变的位置和类型的关系
对Townes-Brocks综合征的研究现状进行综述。
Townes-Brocks Syndrome(TBS [MIM:107480])is a rare disease of autosomal dominant inheritance that can lead to multiple system abnormalities such as ear malformations
hearing loss
anal atresia
and thumb malformations. Pathogenic mutations in the SALL1 gene(spalt like transcription factor 1 [MIM: 602218]) are the most important causes of TBS by mechanisms including haplotype insufficiency and dominant negative effects
but the genotype-phenotype correlation of TBS is still unclear. Therefore
we reviewed all cases of TBS cases carrying SALL1 pathogenic mutations reported before January 2021
and summarized the relationship between phenotypes of TBS and SALL1 gene mutations
also we reviewed the current research status of TBS.
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