title: Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
abstract: A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid. Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation (c.920T>G, p.Leu307Arg) in the patient and his father and a heterozygous deletion comprising exon 1 in the patient and his mother. The missense mutation (c.920T>G) was not found in 100 healthy controls and has not been reported previously. Our findings expand the number of reported cases and add a novel entry to the repertoire of MLYCD mutations.
authors: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China.
authors: Jinjie
authors: J
authors: Xue
authors: Jing
authors: J
authors: Peng
authors: Mingxing
authors: M
authors: Zhou
authors: Le
authors: L
authors: Zhong
authors: Fei
authors: F
authors: Yin
authors: Desheng
authors: D
authors: Liang
authors: Lingqian
authors: L
authors: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002262:Carboxy-Lyases / Q000172:deficiency / Q000235:genetics*; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008316:Malonyl Coenzyme A; D053858:Metabolic Networks and Pathways / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics*; D008764:Methylmalonic Acid; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*
chemical_list: D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase