β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the αVβ6 integrin receptor

Extensive diagnostics included biopsies of liver, muscle, bone marrow, small intestine, the exclusion of known congenital diarrhoea reasons and immunodeficiencies by leucocyte FACS, CD40L expression, WASP staining, et cetera with no results.2 Familial anamnesis revealed similar fatalities of a sister and further cousins from the patient’s known generation within their first year of life due to intractable diarrhoea (figure 1A; 5 fatalities/16 infants). [...]ITGB6 morpholino injection led to altered tailfin epithelia recovery after standardised injuries in zebrafish embryos with significant delays in wound recovery when morpholinos were used at 0.3, 0.6 or 0.9 mM after 24 hours and increased mortality after 48 hours above 0.9 mM, supporting a role of ITGB6 in tissue integrity (figure 2D1–5). Disclaimer The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.