Abstract
The major cause of lipid storage myopathies (LSM) in China is multiple acyl-CoA dehydrogenase deficiency (MADD) caused by ETFDH mutations. We here present an analysis of the spectrum of ETFDH mutations in the largest cohort of patients with MADD (90 unrelated patients). We identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence. Three frequent mutations were identified: c.250G > A (most common in South China), c.770A > G and c.1227A > C (most common in both South and North China). Regional differences of allele frequency and further haplotype analysis suggest the possibility of founder effects of c.250G > A and c.770A > G. These findings promise to provide the basis for implementing a rapid and economical strategy for diagnosing MADD.
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Acknowledgments
We thank all the patients for their contributions and Dr. Wang Haijian from the School of Life Sciences & Institutes of Biomedical Sciences, Fudan University for assistance with haplotype analysis.
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Funding
This work was supported by the National Natural Science Foundation of China [30970993 and 81171182].
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Communicated by: Georg Hoffmann
Jianying Xi and Bing Wen contributed equally to this work.
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Xi, J., Wen, B., Lin, J. et al. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 37, 399–404 (2014). https://doi.org/10.1007/s10545-013-9671-6
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DOI: https://doi.org/10.1007/s10545-013-9671-6