Loss of syntaxin 3 causes variant microvillus inclusion disease.
Gastroenterology
; 147(1): 65-68.e10, 2014 Jul.
Article
en En
| MEDLINE
| ID: mdl-24726755
ABSTRACT
Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. Most patients with MVID have mutations in myosin Vb that cause defects in recycling of apical vesicles. Whole-exome sequencing of DNA from patients with variant MVID showed homozygous truncating mutations in syntaxin 3 (STX3). STX3 is an apical receptor involved in membrane fusion of apical vesicles in enterocytes. Patient-derived organoid cultures and overexpression of truncated STX3 in Caco-2 cells recapitulated most characteristics of variant MVID. We conclude that loss of STX3 function causes variant MVID.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteínas Qa-SNARE
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Síndromes de Malabsorción
/
Microvellosidades
/
Mucolipidosis
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Gastroenterology
Año:
2014
Tipo del documento:
Article
País de afiliación:
Países Bajos