TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.
Anoctamin-1
/ deficiency
Biological Transport
/ genetics
Calcium
/ metabolism
Chloride Channels
/ genetics
Chlorides
/ metabolism
Cystic Fibrosis
/ genetics
Female
Genetic Predisposition to Disease
HEK293 Cells
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases
/ epidemiology
Male
Neoplasm Proteins
/ deficiency
gastroenterology
genetics
pediatrics
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
06
03
2020
revised:
14
04
2020
accepted:
18
04
2020
pubmed:
4
6
2020
medline:
3
9
2021
entrez:
4
6
2020
Statut:
ppublish
Résumé
TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent episodes of haemorrhagic diarrhoea. In one of them, the episodes were characterised by hepatic pneumatosis with gas bubbles in the portal vein similar to necrotising enterocolitis of the newborn. Exome sequencing identified a homozygous truncating pathogenic variant in The identified variant led to TMEM16A dysfunction, which resulted in abolished calcium-activated Cl TMEM16A deficiency is a potentially fatal disorder caused by abolished calcium-activated Cl
Identifiants
pubmed: 32487539
pii: jmedgenet-2020-106978
doi: 10.1136/jmedgenet-2020-106978
doi:
Substances chimiques
ANO1 protein, human
0
Anoctamin-1
0
Chloride Channels
0
Chlorides
0
Neoplasm Proteins
0
Calcium
SY7Q814VUP
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
247-253Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.