18例Barth综合征患儿的临床和遗传学特征分析

詹湉柳, 严子航, 吴近近, 陈浩, 陈丽君, 陈轶维, 傅立军

Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

ZHAN Tianliu, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun

表3 18例BTHS患儿的基因突变信息

Tab 3 Mutations in 18 BTHS patients

Location Nucleotide change Amino acid change Type of mutation Number of pedigree Mother with proven TAZ mutation Exon 1 c.85G>A p.G29S Missense mutation 1 Yes Exon 2 c.134_136delinsCC p.H45PfsX38 Frameshift mutation 1 Yes Exon 2 c.193A>G p.T65A Missense mutation 1 Yes Exon 2 c.207C>A p.H69Q Missense mutation 1 Yes Exon 2 c.226C>T p.P76S Missense mutation 1 Yes Exon 3‒5 Del exon 3‒5 Exon deletions 1 Yes Exon 4 c.324_325insCACTCC p.111_112insSH Inframe mutation 1 Not mutated Exon 4 c.367C>T p.R123X Nonsense mutation 2 Yes Exon 6 c.527A>G p.H176R Missense mutation 2 Yes Exon 8 c.589G>A p.G197R Missense mutation 2 Yes Exon 10 c.710_711delTG p.V237AfsX73 Frameshift mutation 1 Yes Exon 10 c.718G>A p.G240R Missense mutation 1 Yes Intron 9 c.699+1G>A p.? Splicing defect 1 Not available Intron 10 c.777+1G>A p.? Splicing defect 1 Yes TAZ gene Del TAZ gene Gene deletion 1 Not available