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Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities
- Source :
- Prenatal Diagnosis. 42:136-140
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- Backgrounds Microvillus inclusion disease (MVID) characterizes as intractable life-threatening watery diarrhea malnutrition after birth. MATERIALS & METHODS: Here we describe two patients with prenatal ultrasound findings of bowel dilation or increased amniotic fluid volume presented intractable diarrhea after birth. Exome sequencing and Intestinal biopsy were performed for the patients and their parents to reveal the underlying causes. The mutations were verified by Sanger sequencing and quantitative polymerase chain reaction. Results Exome sequencing revealed that both of the patients carrying MYO5B compound heterozygote mutations that were inherited from their parents. Conclusion Here we describe two cases with MVID caused by MYO5B deficiency, which was the most common caused with prenatal ultrasound findings of bowel dilation and increased amniotic fluid volume. Due to the lack of effective curative therapies, early diagnosis even in prenatal of MVID can provide parents with better genetic counseling on the fetal prognosis.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Noninvasive Prenatal Testing
Genetic counseling
Myosin Type V
Gestational Age
Disease
Compound heterozygosity
Ultrasonography, Prenatal
symbols.namesake
Malabsorption Syndromes
Mucolipidoses
Exome Sequencing
medicine
Humans
Genetics (clinical)
Exome sequencing
Sanger sequencing
Fetus
Microvilli
Myosin Heavy Chains
business.industry
Infant, Newborn
Obstetrics and Gynecology
medicine.disease
Malnutrition
Real-time polymerase chain reaction
Mutation
symbols
Female
business
Subjects
Details
- ISSN :
- 10970223 and 01973851
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- Prenatal Diagnosis
- Accession number :
- edsair.doi.dedup.....288582d0abd7487fa6b4d6ca872466fa