Genetic analysis and prenatal diagnosis of novel GCDH variant responsible for glutaric aciduria type

Objective To identify pathogenic gene variants of glutaric aciduria typeⅠ (GAⅠ) and provide reference for prenatal diagnosis of this disease. Methods Genomic DNA was extracted from the family members of a suspected case of GAⅠ. Whole exome sequencing was performed on the proband, and DNA Sanger sequencing was performed on the parents to verify the variants and analyze their pathogenicity. Amniotic fluid fetal cells were extracted by amniocentesis at 18 weeks of gestation to detect GCDH gene. Literature review was conducted from PubMed, CNKI, Wanfang Data and Chongqing VIP databases using the keywords of “glutaric aciduria typeⅠ”, “GCDH” and prenatal diagnosis in both Chinese and English. Results Two variants of GCDH gene were detected in the proband： c.206_207delAC(p.Thr70Leufs*117) and c.892G>A(p.Ala298Thr), from the father and mother, respectively. The paternal variant was a novel variant, and the maternal variant was a known variant. And two variants were both pathogenic. GCDH gene variant analysis of amni