title: Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
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.
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
authors.forename: Jianying
authors.initials: J
authors.lastname: Xi
authors.forename: Bing
authors.initials: B
authors.lastname: Wen
authors.forename: Jie
authors.initials: J
authors.lastname: Lin
authors.forename: Wenhua
authors.initials: W
authors.lastname: Zhu
authors.forename: Sushan
authors.initials: S
authors.lastname: Luo
authors.forename: Chongbo
authors.initials: C
authors.lastname: Zhao
authors.forename: Duoling
authors.initials: D
authors.lastname: Li
authors.forename: Pengfei
authors.initials: P
authors.lastname: Lin
authors.forename: Jiahong
authors.initials: J
authors.lastname: Lu
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D044927:Electron-Transferring Flavoproteins / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000235:genetics*; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*
chemical_list: D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase