Article
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
Clinical genetics - 1 Nov 2015
Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, Yang R, Yin X, Yu P, Huang X, Qi M
Abstract excerpt
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive inborn error of leucine metabolism, caused by mutations in either MCCC1 or MCCC2 gene. We identified eight novel mutations of MCCC1 or MCCC2 in six Chinese newborns screened by tandem mass spectrometry. Transcript analysis revealed that the novel splice mutation c.639+5G>T produced a normal transcript and a transcript of exon 6 skipping...
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