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[Phenotypic and genetic analysis of a family affected with microvillus inclusion disease]
Man Mao1, Li Guo, Zhanhui Zhang
1Center of Clinical Laboratory Medicine, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, China. songyuanzong@vip.tom.com; . wenwangrong@yeah.net.
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.
Insights
Microvillus inclusion disease in an infant was diagnosed due to novel compound mutations in the MYO5B gene. This expands the known MYO5B mutation spectrum, aiding genetic counseling for affected families.
Area of Science:
- Genetics
- Molecular Biology
- Pediatric Gastroenterology
Background:
- Microvillus inclusion disease (MVID) is a rare, severe congenital enteropathy.
- Genetic defects in the MYO5B gene are a known cause of MVID.
- Understanding MYO5B mutations is crucial for diagnosis and management.
Observation:
- A patient presented with severe, complex symptoms including respiratory distress, dehydration, acidosis, bowel dilatation, and multi-organ dysfunction.
- Clinical manifestations were consistent with severe congenital secretory diarrhea.
- Genetic analysis identified a compound mutation in the MYO5B gene.
Findings:
- The patient harbored a novel compound mutation in the MYO5B gene: a splice-site mutation (IVS37-1G>C) inherited from the mother and a frameshift mutation (c.2729_2731delC, p.R911Afs916X) from the father.
- Both identified MYO5B mutations were previously unreported.
- The molecular findings confirmed the diagnosis of microvillus inclusion disease.
Implications:
- This study expands the known mutation spectrum of the MYO5B gene in MVID.
- The identification of novel mutations provides valuable molecular data for the affected family.
- Findings contribute to improved genetic counseling and understanding of MVID pathogenesis.
