Introduction. Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive disease. MVID is characterized by neonatal secretory diarrhea and malabsorption and includes distinctive histological and clinical phenotypes. MVID contributes to 7% of all pediatric small bowel transplantations worldwide. A growing number of unique MYO5B mutations have been associated with MVID.
Materials and methods. In order to collect as much as genotypic and phenotypic information possible on MVID we have constructed the International MVID Patient Registry and database of associated MYO5B mutations (http://www.MVID-central.org).
Results. This online registry contains detailed information of 141 published and unpublished patients and 39 unique MYO5B mutations in x patients. This group represents 27 % of all MVID patients are reported in the literature. Stored mutations include premature stop codons, missense mutations, splice site mutations, deletions and insertions.All but one missense mutations cluster in the myosin Vb head domain, whereas the nonsense, splice-site and deletions/insertions are found randomly in the motor, lever arm, and tail domain. While some of the mutations result in loss of myosin Vb protein expression, other MYO5B mutations involve residues that are important for the function of the myosin Vb protein.
Conclusion. The patient registry and mutation database will contribute to reliable genetic counseling and lead to novel insights into MVID genotype-phenotype correlations and pathogenesis.
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