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目的研究1例糖原累积病Ⅳ型(GSDⅣ)患者及其家系的基因突变情况。方法患儿,女,1岁5个月,因轻度黄疸,肝脾肿大2月,生长迟缓1年就诊。采集该家系先证者及其父母,两个哥哥的外周血,采用二代测序方法查找先证者致病基因及突变位点,Sanger测序进行突变验证。结果该家系先证者为GBE1基因c.1571G>A纯合错义突变,双亲及一个哥哥为GBE1基因c.1571G>A杂合错义突变,另一个哥哥基因检测未见该突变,确诊为GSDⅣ型,建议行肝移植治疗,因家属拒绝,患儿于生后22个月死亡。结论首次在国内报道了GSDⅣ型的家系及其分子遗传情况以及GBE1基因c.1571G>A纯合突变,丰富了GSDⅣ型在中国人群的突变谱。
Objective To investigate the gene mutation in one patient with glycogen storage disease type Ⅳ (GSD Ⅳ) and its family. Methods Children, 1 year old and 5 months, due to mild jaundice, hepatosplenomegaly in February, growth retardation 1 year treatment. The family of probands and their parents, two brothers, peripheral blood collected using second-generation sequencing method to find the proband’s disease-causing genes and mutation sites, Sanger sequencing mutational validation. Results The pedigree was a homozygous missense mutation of c.1571G> A in GBE1 gene, a heterozygous missense mutation of c.1571G> A in GBE1 gene was detected in both parents and one brother, and the other was not detected in the other brother gene test GSD type Ⅳ, the proposed line of liver transplantation treatment, refused because of family members, children died after 22 months of life. Conclusion The pedigree of GSD type Ⅳ and its molecular genetic status as well as the homozygous mutation of GBE1 gene c.1571G> A were reported for the first time in China, enriching the mutation spectrum of GSD Ⅳ in Chinese population.