重庆医学2016，Vol.45Issue(18)：2460-2463,4.DOI:10.3969/j.issn.1671-8348.2016.18.004
一患青年型糖原贮积症Ⅱ型姐弟的家系GAA基因新突变分析
Analysis on novel mutations in GAA gene of a Chinese family with two siblings affected with juvenile onset form glycogen storage disease Ⅱ
摘要
Abstract
Objective To identify a novel pathogenicity mutation of acid alpha‐glucosidase(GAA) gene in a Chinese family with two siblings affected with juvenile onset form glycogen storage disease Ⅱ(GSD Ⅱ) .Methods The clinical and family data of two siblings presenting recurrent respiratory tract infections ,respiratory failure associated with systemic muscle weakness ,were an‐alyzed and diagnosed with GSD Ⅱ by detecting alpha‐1 ,4‐glucosidase activity .DNA was extracted from peripheral blood of the proband ,younger brother and his parents .All 20 exons and the intron‐exon splice sites of GAA gene were amplified by polymerase chain reaction (PCR) .Mutations were detected by direct sequencing the PCR products .Results The younger brother was found to be compound heterozygous for two mutations in the GAA gene :c .1216G>A (p .Asp406Asn) missense mutation in the exon 8 from his father and c .1935C>A (p .Asp645Glu) missense mutation in the exon 14 from his mother .Conclusion The compound hetero‐zygous c .1216G>A and c .1935C>A mutations caused the juvenile onset form GSD Ⅱ characterized by dyspnea and cardiac hyper‐trophy .The novel c .1216G>A mutation may be related to the juvenile onset form GSD Ⅱ .关键词
糖原贮积症Ⅱ型/pompe病/青年型/酸性α-葡萄糖苷酶/新突变/c .1216G>A/c .1935C>AKey words
glycogen storage disease Ⅱ/pompe disease/juvenile onset/acid alpha-glucosidase/novel mutation/c .1216G>A/c .1935C>A分类
医药卫生引用本文复制引用
徐玲玲,唐雯,梁玉坚,张成,黄雪琼,张丽丹,裴瑜馨,程玉才..一患青年型糖原贮积症Ⅱ型姐弟的家系GAA基因新突变分析[J].重庆医学,2016,45(18):2460-2463,4.基金项目
2010年国家临床重点专科建设项目（部183）。 （）
