Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant ofGLI2 gene
范言诗 1丁曙霞 1吴军华 1邱海燕 1梁程红 李岭
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作者信息
1. 宁波市妇女儿童医院，宁波 315000
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摘要
目的 分析1例生长缓慢、多指畸形患儿的基因变异，明确其致病原因。 方法 选取2021年5月因"发现生长速度减慢2年余"至宁波市妇女儿童医院就诊的1例患儿为研究对象。采集患儿及其父母的外周血样，提取DNA，对患儿进行全外显子组测序，用Sanger测序对GLI2基因的候选变异进行家系验证。 结果 患儿GLI2基因存在c.3670C>T(p.Q1224*)杂合变异，导致编码蛋白的多肽链合成提前终止，其父母均未检测到相同的变异。 结论 患儿被确诊为Culler-Jones综合征。GLI2基因的c.3670C>T(p.Q1224*)杂合变异可能是其遗传学病因。 Objective To explore the genetic basis for a child featuring short stature and postaxial polydactyly. Methods A case of child who presented at Ningbo Women & Children′s Hospital in May 2021 due to the" discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members. Results The child was found to harbor a heterozygous c. 3670C>T (p.Q1224) variant of theGLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent. Conclusion The child was diagnosed with Culler-Jones syndrome. The c. 3670C>T (p.Q1224*) variant of theGLI2 gene probably underlay the disease in this child.
Abstract
Objective To explore the genetic basis for a child featuring short stature and postaxial polydactyly. Methods A case of child who presented at Ningbo Women & Children′s Hospital in May 2021 due to the" discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members. Results The child was found to harbor a heterozygous c. 3670C>T (p.Q1224) variant of theGLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent. Conclusion The child was diagnosed with Culler-Jones syndrome. The c. 3670C>T (p.Q1224*) variant of theGLI2 gene probably underlay the disease in this child.
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