Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion

Marie-Antoinette Voelckel , Lydie Girardot , Bernard Giusiano , Nicolas Levy , Nicole Philip
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引用次数: 9

Abstract

Microdeletion at the 22q11 locus is characterised by a high clinical variability. Congenital heart defects (CHD) are the most life-threatening manifestations of the syndrome and affect approximately 50% of patients carrying the deleted chromosome 22. The causes of this phenotype variability remain unknown although several hypotheses have been raised. It has been suggested that allelic variations at the haploid locus could modify the phenotypic expression. Regarding this hypothesis, TBX1 was thought to be a major candidate to the cardiac phenotype or its severity in patients carrying the 22q11 microdeletion. A mutational screening was performed in this gene, in a series of 39 deleted patients, with and without CHD. The results indicate that mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients.

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在22q11微缺失的病例中,单倍体TBX1位点的等位基因变异不影响心脏表型
22q11位点的微缺失具有很高的临床变异性。先天性心脏缺陷(CHD)是该综合征中最危及生命的表现,约50%携带22号染色体缺失的患者受到影响。尽管提出了几种假设,但这种表型变异的原因仍然未知。单倍体位点的等位基因变异可能改变表型表达。根据这一假设,TBX1被认为是携带22q11微缺失的患者心脏表型或其严重程度的主要候选者。在39例有或无冠心病的缺失患者中,对该基因进行了突变筛查。结果表明,在del22q11患者中观察到的心脏表型不太可能涉及TBX1突变。
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