Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. (23rd December 2014)

• Record Type: Journal Article
• Authors: Yang, L.; Yang, J.; Zhang, T.; Weng, C.; Hong, F.; Tong, F.; Yang, R.; Yin, X.; Yu, P.; Huang, X.; Qi, M.
• Is Part Of: Clinical genetics. Volume 88:Number 5(2015:Nov.)
• Page Start: 484
• Page End: 488
• Publication Date: 2014-12-23
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12535
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12535-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12535-para-0001">3‐Methylcrotonyl‐CoA carboxylase (MCC) deficiency is an autosomal recessive inborn error of leucine metabolism, caused by mutations in either <italic>MCCC1</italic> or <italic>MCCC2</italic> gene. We identified eight novel mutations of <italic>MCCC1</italic> or <italic>MCCC2</italic> in six Chinese newborns screened by tandem mass spectrometry. Transcript analysis revealed that the novel splice mutation c.639+5G&gt;T produced a normal transcript and a transcript of exon 6 skipping which led to truncated <italic>MCCC1</italic> protein. The remaining seven novel mutations may cause structure damage and dysfunction of MCC as predicted by <italic>in silico</italic> analysis. In conclusion, our study expands the spectrum of mutations found in <italic>MCCC1</italic> and <italic>MCCC2</italic> and provides a rough prevalence of 1 of 68, 333 in Chinese population. Although the affected patients remained asymptomatic during follow‐up, we hold the view that early detection through newborn screening, early intervention and follow‐up may provide an important guidance to prevent subsequent metabolic disorders and deal with crisis later in life.</p> </abstract>