PDF(Pubmed)
Abstract：
BACKGROUND: Pathogenic mutations in EVC or EVC2 gene can lead to Ellis-van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC syndrome in fetuses showing ultrasound anomalies.
METHODS: A 32-year-old pregnant woman from Quanzhou, China was investigated. In her pregnancy examination, the fetus exhibited multiple fetal malformations, including a narrow thorax, short limbs, postaxial polydactyly, cardiac malformations, and separation of double renal pelvis. Karyotype, chromosomal microarray analysis and whole exome sequencing were performed for prenatal genetic etiology analysis.
RESULTS: Chromosome abnormalities and copy number variants were not observed in the fetus using karyotype and chromosomal microarray analysis. Using whole exome sequencing, two compound heterozygous variants NM_147127.5:c.[2484G>A(p.Trp828Ter)];[871-2_894del] in EVC2 gene were identified in the fetus as pathogenic variants inherited from parents.
CONCLUSIONS: The study is the first to identify two rare compound variants in EVC2 gene in a Chinese family using whole exome sequencing. The application of whole-exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies.
METHODS: A 32-year-old pregnant woman from Quanzhou, China was investigated. In her pregnancy examination, the fetus exhibited multiple fetal malformations, including a narrow thorax, short limbs, postaxial polydactyly, cardiac malformations, and separation of double renal pelvis. Karyotype, chromosomal microarray analysis and whole exome sequencing were performed for prenatal genetic etiology analysis.
RESULTS: Chromosome abnormalities and copy number variants were not observed in the fetus using karyotype and chromosomal microarray analysis. Using whole exome sequencing, two compound heterozygous variants NM_147127.5:c.[2484G>A(p.Trp828Ter)];[871-2_894del] in EVC2 gene were identified in the fetus as pathogenic variants inherited from parents.
CONCLUSIONS: The study is the first to identify two rare compound variants in EVC2 gene in a Chinese family using whole exome sequencing. The application of whole-exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies.
摘要：
背景：EVC或EVC2基因的致病突变可导致Ellis-vanCreveld（EvC）综合征，这是一种罕见的常染色体隐性遗传骨骼发育不良症。这项研究旨在确定显示超声异常的胎儿中与EvC综合征相关的致病基因变异。
方法：泉州一名32岁孕妇,中国被调查。在她的怀孕检查中，胎儿表现出多个胎儿畸形，包括狭窄的胸部,四肢短,后轴多指，心脏畸形,和双肾盂分离。核型,染色体微阵列分析和全外显子组测序用于产前遗传学病因分析.
结果：使用核型和染色体微阵列分析，在胎儿中未观察到染色体异常和拷贝数变异。使用全外显子组测序，两个复合杂合变体NM_147127.5:c.[2484G>A（p。Trp828Ter）];EVC2基因中的[871-2_894del]在胎儿中被鉴定为遗传自父母的致病变异。
结论：该研究首次使用全外显子组测序技术在一个中国家族中鉴定了EVC2基因中的两种罕见化合物变体。全外显子组测序的应用将有助于超声异常的胎儿病因诊断。
方法：泉州一名32岁孕妇,中国被调查。在她的怀孕检查中，胎儿表现出多个胎儿畸形，包括狭窄的胸部,四肢短,后轴多指，心脏畸形,和双肾盂分离。核型,染色体微阵列分析和全外显子组测序用于产前遗传学病因分析.
结果：使用核型和染色体微阵列分析，在胎儿中未观察到染色体异常和拷贝数变异。使用全外显子组测序，两个复合杂合变体NM_147127.5:c.[2484G>A（p。Trp828Ter）];EVC2基因中的[871-2_894del]在胎儿中被鉴定为遗传自父母的致病变异。
结论：该研究首次使用全外显子组测序技术在一个中国家族中鉴定了EVC2基因中的两种罕见化合物变体。全外显子组测序的应用将有助于超声异常的胎儿病因诊断。
