2甲基3羟基丁酰辅酶A脱氢酶缺陷症一家系基因突变分析

2甲基3羟基丁酰辅酶A脱氢酶缺陷症一家系基因突变分

析

舒剑波;张玉琴;姜淑贞;张春花;孟英韬;王洪;宋力

【期刊名称】《中华儿科杂志》 【年(卷),期】2013(051)010

【摘要】Objective The aim of this study was to explore the genetic features

of

a

family

with

2-methyl-3-hydroxybutyryl-CoA

dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling.Method Clinical data of the proband was collected,total RNA and genomic DNA were extracted from the peripheral blood.The whole coding region of the ACAT1 gene was amplified by RT-PCR.5' noncoding region of the ACAT1 gene and all 6 exons and flanking intron regions of the HADH2 gene were amplified by PCR.All amplification products were directly sequenced and compared with the reference sequence.Result (1) The patient was a one-year-old boy who presented with psychomotor retardation and astasia when he was admitted to the hospital.Biochemical test revealed slight hyperlactatemia (3.19 mmol/L)and magnetic resonance imaging showed delayed myelination.2-Methylacetoacetyl-CoA thiolase deficiency was suggested by gas chromatography-mass spectrometry.(2) There was no mutation in the ACAT1 gene and a hemizygous missense mutation c.388C ＞ T was found in the 4 exon of the HADH2 gene which resulted