MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report.

ABSTRACT:

Background

With recent advances in gene sequencing technology, more than 60 genetic mutations associated with very early onset inflammatory bowel disease (VEO-IBD) have been reported. Most of the genes are associated with immune deficiencies. The Myosin 5B (MYO5B) gene is primarily involved in cell motility and material transport which is associated with congenital intractable diarrhea and cholestasis. No studies have examined the relationship between the MYO5B gene and VEO-IBD. We report a case of a child with a mutation in the MYO5B gene who was diagnosed with VEO-IBD, then we investigated the association between the MYO5B gene and VEO-IBD.

Case presentation

A 7-month-old baby girl with a chief complaint of "blood in the stool for more than 4 months and vaginal pus and blo

SUBMITTER: Lou Y 

PROVIDER: S-EPMC11250955 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature