微绒毛包涵体病一家系的表型及遗传学分析  

Phenotypic and genetic analysis of a family affected with microvillus inclusion disease

作　　者：毛曼[1] 郭丽[2] 张占会[3] 王斌[4] 黄珊华 宋元宗[2] 陈凤平[1] 温旺荣[1] 

机构地区：[1]暨南大学附属第一医院临床医学检验中心,广州510630 [2]暨南大学附属第一医院儿科,广州510630 [3]暨南大学附属第一医院中心实验室,广州510630 [4]南方医科大学珠江医院儿科,广州510282 [5]广东省阳江市人民医院新生儿科,529500

出　　处：《中华医学遗传学杂志》2016年第6期792-796,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81270957）

摘　　要：目的探讨一个微绒毛包涵体病家系的临床及MY05B基因突变特点。方法收集患儿临床资料，提取患儿及其父母外周血DNA，PCR扩增MY05B基因的全部外显子及其侧翼序列，并直接测序寻找致病突变。结果患儿除严重而难治性的腹泻以外，还有呼吸窘迫综合征、脱水、酸中毒、肠管扩张和肝、肾功能异常等复杂临床表现。测序结果显示患儿系MY05B基因IVS37-1G＞c和c．2729-273ldelC复合突变杂合子，父母分别为c．2729_2731delC（p．RgllAfs916X）和IVS37-1G＞C杂合突变携带者。患儿的突变分别源自其父母。两个突变均为未报道过的新突变。结论c．2729_2731delC（p．R911Afs916X）和IVS37-1G＞C突变为该微绒毛包涵体病患儿的病因。我们的结果扩展了MY05B基因突变谱，为家系的遗传咨询提供了依据。Objective To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease. Methods Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene. Results The patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea. A compound mutation of the MYO5B gene, i. e. , IVS37- 1G〉C/c. 2729_2731delC （p. R911Afs916X）, was discovered in the patient.The former was a splice-site mutation inherited from the mother, while the latter was a frameshift mutation inherited from the father. Both were not reported previously. Conclusion Based on the clinical and molecular evidence, the patient was diagnosed with microvillus inclusion disease. Above finding has expanded the mutation spectrum of the MYO5B gene, which can provide valuable information for genetic counseling for the family.

关 键 词：微绒毛包涵体病 MYO5B基因 复合杂合突变 

分 类 号：R72[医药卫生—儿科]