Microvillus Inclusion Disease Caused by MYO5B : Different Presentation and Phenotypes Despite Same Mutation

Microvillus inclusion disease (MVID) is associated with specific variants in the gene causing disrupt epithelial cell polarity. MVID may present at birth with intestinal symptoms or with extraintestinal symptoms later in childhood. We present 3 patients, of whom 2 are siblings, with variants and dif...

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Bibliographic Details
Published in:JPGN reports 2023-05, Vol.4 (2), p.e309-e309
Main Authors: Andreassen, Bente Utoft, Aunsholt, Lise, Østergaard, Elsebet, Ek, Jakob, Maroun, Lisa Leth, Jørgensen, Marianne Hørby
Format: Article
Language:English
Subjects:
Case Report
Hepatology
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Summary:Microvillus inclusion disease (MVID) is associated with specific variants in the gene causing disrupt epithelial cell polarity. MVID may present at birth with intestinal symptoms or with extraintestinal symptoms later in childhood. We present 3 patients, of whom 2 are siblings, with variants and different clinical manifestations, ranging from isolated intestinal disease to intestinal disease combined with cholestatic liver disease, predominant cholestatic liver disease clinically similar to low-gamma-glutamyl transferase PFIC, seizures, and fractures. We identified 1 previously unreported MYO5B variant and 2 known pathogenic variants and discuss genotype-phenotype correlations of these variants. We conclude that MVID may present phenotypically different and mimic other severe diseases. We suggest that genetic testing is included early during diagnostic investigations of children with gastrointestinal and cholestatic presentation.
ISSN:2691-171X
2691-171X
DOI:10.1097/PG9.0000000000000309