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首页> 外文期刊>Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function >Novel mutation in Forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome
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Novel mutation in Forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome

机译：印度Rett综合征患者的叉头盒G1（FOXG1）基因的新型突变

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Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by the progressive loss of intellectual functioning, fine and gross motor skills and communicative abilities, deceleration of head growth, and the development of stereotypic hand movements, occurring after a period of normal development. The classic form of RTT involves mutation in MECP2 while the involvement of CDKL5 and FOXG1 genes has been identified in atypical RTT phenotype. FOXG1 gene encodes for a fork-head box protein G1, a transcription factor acting primarily as transcriptional repressor through DNA binding in the embryonic telencephalon as well as a number of other neurodevelopmental processes. In this report we have described the molecular analysis of FOXG1 gene in Indian patients with Rett syndrome. FOXG1 gene mutation analysis was done in a cohort of 34 MECP2/CDKL5 mutation negative RTT patients. We have identified a novel mutation (p. D263VfsX190) in FOXG1 gene in a patient with congenital variant of Rett syndrome. This mutation resulted into a frameshift, thereby causing an alteration in the reading frames of the entire coding sequence downstream of the mutation. The start position of the frameshift (Asp263) and amino acid towards the carboxyl terminal end of the protein was found to be well conserved across species using multiple sequence alignment. Since the mutation is located at forkhead binding domain, the resultant mutation disrupts the secondary structure of the protein making it non-functional. This is the first report from India showing mutation in FOXG1 gene in Rett syndrome.
机译：Rett综合征（RTT）是一种严重的神经发育障碍，其特征是在正常发育一段时间后，逐渐丧失智力功能，精细和粗略的运动技能和交流能力，头部生长减慢以及定型手部运动的发展。 RTT的经典形式涉及MECP2中的突变，而CDKL5和FOXG1基因的参与已在非典型RTT表型中确定。 FOXG1基因编码叉头盒蛋白G1，这是一种转录因子，主要通过胚胎端脑中的DNA结合以及许多其他神经发育过程充当转录阻遏物。在本报告中，我们描述了印度Rett综合征患者FOXG1基因的分子分析。在34名MECP2 / CDKL5突变阴性RTT患者队列中进行了FOXG1基因突变分析。我们在患有先天性雷特综合征的患者中发现了FOXG1基因的新型突变（p。D263VfsX190）。该突变导致移码，从而导致突变下游的整个编码序列的阅读框发生改变。使用多重序列比对，发现跨物种的移码（Asp263）和氨基酸朝向蛋白质羧基末端的起始位置在所有物种中都非常保守。由于突变位于叉头结合结构域，因此产生的突变破坏了蛋白质的二级结构，使其失去功能。这是来自印度的第一份报告，显示Rett综合征的FOXG1基因突变。

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