Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families

Claudia Gruenauer-Kloevekorn, Ursula G. Froster
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引用次数: 27

Abstract

Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder. We report on two unrelated families with HOS. Affected members of both families have the same truncation mutation in exon 5 of the TBX5 gene (Y136X). This mutation has not been reported before in HOS. The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case. So far, only a single genotype-phenotype analysis in HOS has been done which is not sufficient to explain the high inter- and intrafamilial variability of expression. Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS.

Holt-Oram综合征:两个不相关家族中TBX5基因的新突变
Holt-Oram综合征(HOS)是一种特殊的发育缺陷,涉及上肢畸形和心脏缺陷。位于12q24.1号染色体上的TBX5基因突变被证明是该疾病几个家族的潜在分子缺陷。我们报导两个没有血缘关系的居屋家庭。两个家族的受影响成员在TBX5基因外显子5上具有相同的截断突变(Y136X)。这种突变在HOS中从未报道过。两个家庭的缺陷谱相似,表现为ASD,三角肌发育不全,一个病例的拇指发育不全或缺失延伸到桡骨缺陷。到目前为止,仅对HOS进行了单一基因型-表型分析,这不足以解释家族间和家族内表达的高变异性。我们的观察结果进一步支持了TBX5基因突变的位置与HOS的表型表达有关。
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