title: [Phenotypic and genetic analysis of a family affected with microvillus inclusion disease].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Center of Clinical Laboratory Medicine, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, China. songyuanzong@vip.tom.com; . wenwangrong@yeah.net.
authors.forename: Man
authors.initials: M
authors.lastname: Mao
authors.forename: Li
authors.initials: L
authors.lastname: Guo
authors.forename: Zhanhui
authors.initials: Z
authors.lastname: Zhang
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.forename: Shanhua
authors.initials: S
authors.lastname: Huang
authors.forename: Yuanzong
authors.initials: Y
authors.lastname: Song
authors.forename: Fengping
authors.initials: F
authors.lastname: Chen
authors.forename: Wangrong
authors.initials: W
authors.lastname: Wen
mesh_terms: D005190:Family; D005260:Female; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics*; D008297:Male; D008871:Microvilli / Q000235:genetics / Q000473:pathology*; D009081:Mucolipidoses / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics; D024701:Myosin Type V / Q000235:genetics; D010641:Phenotype
chemical_list: C505832:MYO5B protein, human; D024701:Myosin Type V; D018995:Myosin Heavy Chains