Microvillus Inclusion Disease: A Rare Mutation of STX3 in Exon 9 Causing Fatal Congenital Diarrheal Disease.
STX3
congenital diarrheal disease
microvillus inclusion disease
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
27
05
2020
accepted:
26
07
2020
entrez:
30
6
2022
pubmed:
31
8
2020
medline:
31
8
2020
Statut:
epublish
Résumé
Inherited diarrheal disorders cause serious morbidity resulting in dependence on intensive care and parenteral nutrition. Microvillus inclusion disease (MVID) has been classically described and results from mutations in the gene coding myosin Vb, which is responsible for enterocyte polarization. Newer reports of mutations resulting in truncated syntaxin 3 (STX3) and Munc18-2 (STXBP2) proteins have been elucidated as causative. To date, five cases of STX3 abnormalities resulting in MVID have been described. We report an infant who presented with congenital diarrhea and was determined to have a rare mutation of STX3. This new finding would be beneficial in future functional genotype-phenotype correlation studies.
Identifiants
pubmed: 35769957
doi: 10.1055/s-0040-1716401
pii: 2000081
pmc: PMC9236746
doi:
Types de publication
Case Reports
Langues
eng
Pagination
154-157Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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