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A novel CHD7 variant in a chinese family with CHARGE syndrome
Shan Yanhong,Yao LingFang,Li Linli,Gao Xueping,Jiang Jinghan 한국유전학회 2024 Genes & Genomics Vol.46 No.3
Objective CHARGE syndrome is a rare autosomal dominant (AD) multi-system disorder with a broad and variable clinical manifestation and occurs in approximately 1/10,000 newborns in the world. Mutations in the CHD7 gene are the genetic cause of over 90% of patients with typical CHARGE syndrome. The present study reported a novel variant in the CHD7 gene in a Chinese family with an abnormal fetus. Methods Routine prenatal ultrasound screening showed fetal heart abnormality and left foot varus. Chromosomal microarray analysis (CMA) and fetus-parent whole-exome sequencing (trio-WES) were performed to determine the genetic cause of the fetus. The candidate variant was further verified using Sanger sequencing. Results CMA analysis revealed normal results. However, WES analysis identified a de novo heterozygous variant of c.2919_2922del (NM_017780.4) on exon 11 of CHD7 gene, resulting in a premature truncation of the CHD7 protein (p.Gly975*). The variant was classified as Pathogenic (PVS1 + PS2_Moderate + PM2_Supporting) based on the ACMG guidelines. Combined with the clinical phenotype of fetal heart abnormalities, it was confirmed CHARGE syndrome. Conclusion We identified a novel heterozygous variant c.2919_2922del in CHD7 of a Chinese fetus with CHARGE syndrome, enriching the genotype-phenotype spectrum of CHD7. These results suggest that genetic testing could help facilitate prenatal diagnosis of CHARGE syndrome, thus promoting the appropriate genetic counseling. Objective CHARGE syndrome is a rare autosomal dominant (AD) multi-system disorder with a broad and variable clinical manifestation and occurs in approximately 1/10,000 newborns in the world. Mutations in the CHD7 gene are the genetic cause of over 90% of patients with typical CHARGE syndrome. The present study reported a novel variant in the CHD7 gene in a Chinese family with an abnormal fetus. Methods Routine prenatal ultrasound screening showed fetal heart abnormality and left foot varus. Chromosomal microarray analysis (CMA) and fetus-parent whole-exome sequencing (trio-WES) were performed to determine the genetic cause of the fetus. The candidate variant was further verified using Sanger sequencing. Results CMA analysis revealed normal results. However, WES analysis identified a de novo heterozygous variant of c.2919_2922del (NM_017780.4) on exon 11 of CHD7 gene, resulting in a premature truncation of the CHD7 protein (p.Gly975*). The variant was classified as Pathogenic (PVS1 + PS2_Moderate + PM2_Supporting) based on the ACMG guidelines. Combined with the clinical phenotype of fetal heart abnormalities, it was confirmed CHARGE syndrome. Conclusion We identified a novel heterozygous variant c.2919_2922del in CHD7 of a Chinese fetus with CHARGE syndrome, enriching the genotype-phenotype spectrum of CHD7. These results suggest that genetic testing could help facilitate prenatal diagnosis of CHARGE syndrome, thus promoting the appropriate genetic counseling.
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QTL Mapping of Kernel Oil Content of Chromosome 6 in a High Oil Maize Mutant (Zea mays L.)
Jing Han,Hong Wu Wang,Shao Jiang Chen 한국유전학회 2008 Genes & Genomics Vol.30 No.4
An infrequent high oil maize mutant CE03005 (white seed color and high oil content) from ethyl methane sulphonate pollen mutagenesis was investigated in this research. A F2 population derived from CE03005×B73 was used to analysis the genetic effects influencing kernel oil content and to map kernel oil content QTL. Ears from three generations were harvested and the individual kernel oil content of each generation was measured with nuclear magnetic resonance. Genetic analysis showed that the average oil content of white kernels was significantly higher than that of yellow kernels. Genotypic and phenotypic analyses were compared using composite interval mapping. A QTL (oilc6-m1)associated with high kernel oil content was detected in the three generations at bin 6.01 of chromosome 6 near the phenotypic marker SC (seed color). The mapping results were congruent with the genetic analysis. The results explained the reason why the oil content of the white colored kernels was higher than that of the yellow ones because the oil content QTL linked tightly with the seed color gene in chromosome 6 in the mutant. The way of QTL mapping was credible. Molecular and phenotypic markers identified could be used for breeding purpose and would lend convenience in cloning QTL.
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