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首页> 外文期刊>BMC Pediatrics >A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

机译：阿联酋一家人的新型FGD1突变体，导致Aarskog-Scott综合征

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Background The X-linked condition “Aarskog-Scott syndrome (AAS)” causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 is involved in regulating signaling pathways that control cytoskeleton organization and embryogenesis. Case presentation FGD1 was studied in an Emirati family with two cases of AAS using PCR amplification and direct sequencing of the entire coding region of the gene. Various in silico tools were also used to predict the functional consequences of FGD1 mutations. In the reported family, two brothers harbor a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous. This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 105 erroneous amino acids followed by a premature stop codon at position 106. Full molecular and clinical accounts about the variant are given so as to expand molecular and phenotypical knowledge about this disorder. Conclusions A novel variant in FGD1 was found in an Emirati family with two brothers suffering from AAS. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates.
机译：背景X连锁状态“ Aarskog-Scott综合征（AAS）”导致身材矮小，面部，生殖器和骨骼异常的特征性组合。研究阐明了AAS与FGD1基因突变之间的因果关系，该基因编码Rho / Rac鸟嘌呤交换因子。 FGD1参与调节控制细胞骨架组织和胚胎发生的信号通路。案例介绍FGD1在Emirati家族中进行了研究，其中2例是AAS，使用PCR扩增和基因整个编码区的直接测序。还使用了各种计算机软件工具来预测FGD1突变的功能后果。在报道的家庭中，两个兄弟在FGD1 c.53del（p.Pro18Argfs * 106）中怀有一个新的半合子突变，而母亲则是杂合子。预计这种移码缺失接近FGD1的N端，会以如下方式移动阅读框：将其翻译为105个错误的氨基酸，然后翻译为106位的过早终止密码子。从而扩大有关这种疾病的分子和表型知识。结论在一个阿联酋家庭中，有两个兄弟患有AAS，发现了FGD1的一个新变异。该变体预计为无效突变，这是阿拉伯联合酋长国的同类报道。

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