AGPAT2基因新变异导致先天性全身性脂肪代谢障碍Ⅰ型一例

Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1

目的探讨1例先天性全身性脂肪代谢障碍患儿的遗传学病因。方法采集患儿及其父母的外周血样,提取基因组DNA,用Sanger法对AGPAT2基因的全部外显子以及侧翼序列进行测序分析。结果患儿AGPAT2基因第6和第3外显子分别存在c.792_805delGGAGAACGGGGCCA(p.Gln264Hisfs*208)和c.335C>T(p.P112L)复合杂合变异,分别遗传自其母亲和父亲。其中c.792_805delGGAGAACGGGGCCA(p.Gln264Hisfs*208)尚未见文献报道,而c.335C>T(p.P112L)为已知致病变异。结论AGPAT2基因c.792_805delGGAGAACGGGGCCA(p.Gln264Hisfs*208)和c.335C>T(p.P112L)复合杂合变异可能是患儿的致病原因。

Objective To explore the genetic basis for an infant with congenital generalized lipodystrophy.Methods Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA.All exons and flanking sequences of the AGPAT2 gene were subjected to Sanger sequencing.Results The child was found to harbor compound heterozygous c.792_805delGGAGAACGGGGCCA(p.Gln264Hisfs*208)and c.335C>T(p.P112L)variants in exons 6 and 3 of the AGPAT2 gene,which were respectively inherited from her mother and father.c.792_805delGGAGAACGGGGCCA(p.Gln264Hisfs*208)was previously unreported,while c.335C>T(p.P112L)was known to be pathogenic.Conclusion The compound heterozygous variants of the AGPAT2 gene probably underlie the disease in this child.