Genetic analysis of a child with Meier-Gorlin syndrome due to a variant ofORC6 gene
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目的 分析1例ORC6基因纯合变异所致Meier-Gorlin综合征(MGS)患儿的遗传学特征。 方法 选取2019年3月25日因"自幼生长迟缓"就诊于苏州大学附属儿童医院的1例MGS患儿作为研究对象，收集患儿的临床资料。应用全外显子组测序确认患儿候选位点，Sanger验证确认变异位点并进行致病性分析。 结果 患儿为8岁3个月男性，临床表现为身材矮小、双耳均小、双侧隐睾术后、髌骨发育不良。患儿父母为表兄妹婚配。患儿ORC6基因存在c.712A>T(p.K238*)纯合错义变异，导致氨基酸翻译提前终止。Sanger验证其父母为该变异携带者。根据美国医学遗传学与基因组学学会相关变异指南，c.712A>T(p.K238*)评级为致病性变异(PVS1_Moderate＋PM2_Supporting＋PM3＋PP3＋PP4)。 结论 c.712A>T(p.K238*)考虑是MGS患儿致病的原因，为患儿的确诊提供帮助。 Objective To analyze the genetic characteristics of a child with Meier-Gorlin syndrome (MGS) due to a homozygous variant of the ORC6 gene. Methods A child who was admitted to the Children′s Hospital Affiliated to Soochow University on March 25, 2019 due to growth retardation was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. Results The child, a 8-year-and-3-month-old male, has featured short stature, small ears, bilateral cryptorchidism and patellar dysplasia. His parents were of first cousins. The child was found to harbor a homozygous c. 712A>T (p.K238*) missense variant of theORC6 gene, which may lead to premature termination of protein translation. Sanger sequencing confirmed that both of his parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1_Moderate+ PM2_Supporting+ PM3+ PP3+ PP4). Conclusion The homozygous c. 712A>T (p.K238*) variant probably underlay the MGS in this child.
Objective To analyze the genetic characteristics of a child with Meier-Gorlin syndrome (MGS) due to a homozygous variant of the ORC6 gene. Methods A child who was admitted to the Children′s Hospital Affiliated to Soochow University on March 25, 2019 due to growth retardation was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. Results The child, a 8-year-and-3-month-old male, has featured short stature, small ears, bilateral cryptorchidism and patellar dysplasia. His parents were of first cousins. The child was found to harbor a homozygous c. 712A>T (p.K238*) missense variant of theORC6 gene, which may lead to premature termination of protein translation. Sanger sequencing confirmed that both of his parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1_Moderate+ PM2_Supporting+ PM3+ PP3+ PP4). Conclusion The homozygous c. 712A>T (p.K238*) variant probably underlay the MGS in this child.
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