Homo sapiens Genome sequencing. Homo sapiens

In this study, we introduced a novel variant in GPT2 gene which justifies the NS-ID phenotype in an Iranian family with four affected members (Figure 1). By Trio-WES, c.266A>G; p.(Glu89Gly) variant, in GPT2 gene, was identified and verified by Sanger sequencing. This homozygous variant co-segregates with ID phenotype in all affected members of the family. Actually, the present report is distinct in clinical patterns. Although according to the ACMG-AMP variant interpretation guideline, p.(Glu89Gly) can be considered as an uncertain significant variant, we provided enough in-silico evidence supporting its possible contribution to ID pathogenesis.

本研究在一个包含4名受累成员的伊朗家族中，鉴定出GPT2基因的一种全新变异，该变异可解释该家族的非综合征性智力障碍（NS-ID）表型（图1）。通过三人组全外显子测序（Trio-WES），我们在GPT2基因中检测到c.266A>G; p.(Glu89Gly)变异，并经桑格测序（Sanger sequencing）验证。该纯合变异与该家族所有受累成员的智力障碍（ID）表型共分离。事实上，本报告的临床表型特征具有独特性。尽管根据美国医学遗传学与基因组学学会/分子病理学会（ACMG-AMP）的变异解读指南，p.(Glu89Gly)可被归类为意义未明确的变异，但本研究提供了充分的计算机模拟（in silico）证据，支持该变异可能参与智力障碍的致病过程。