Mao Man, Guo Li, Zhang Zhanhui, Wang Bin, Huang Shanhua, Song Yuanzong, Chen Fengping, Wen Wangrong
Center of Clinical Laboratory Medicine, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):792-796. doi: 10.3760/cma.j.issn.1003-9406.2016.06.010.
To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease.
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.
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.
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.
探讨微绒毛包涵体病家系中MYO5B基因的临床特征及突变情况。
收集1例微绒毛包涵体病患儿的临床资料。提取患者及其父母外周血样本中的基因组DNA。采用聚合酶链反应（PCR）扩增及桑格测序法分析MYO5B基因的所有外显子及其侧翼序列。
该患者表现为复杂的临床症状，包括呼吸窘迫综合征、脱水、酸中毒、肠扩张、肝肾功能障碍以及严重难治性腹泻。在患者中发现了MYO5B基因的复合突变，即IVS37 - 1G>C/c.2729_2731delC（p.R911Afs916X）。前者是来自母亲的剪接位点突变，后者是来自父亲的移码突变，两者均未见既往报道。
基于临床及分子证据，该患者被诊断为微绒毛包涵体病。上述发现扩展了MYO5B基因的突变谱，可为该家系的遗传咨询提供有价值的信息。
