Abstract
To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene. All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. Mutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel. IVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.
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Schedule a callMore From: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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