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TTC7A: Steward of Intestinal Health
- Source :
- Cellular and Molecular Gastroenterology and Hepatology
- Publication Year :
- 2019
- Publisher :
- Elsevier BV, 2019.
-
Abstract
- The increasing incidence of pediatric inflammatory bowel disease, coupled with the efficiency of whole-exome sequencing, has led to the identification of tetratricopeptide repeat domain 7A (TTC7A) as a steward of intestinal health. TTC7A deficiency is an autosomal-recessively inherited disease. In the 5 years since the original description, more than 50 patients with more than 20 distinct disease-causing TTC7A mutations have been identified. Patients show heterogenous intestinal and immunologic disease manifestations, including but not limited to multiple intestinal atresias, very early onset inflammatory bowel disease, loss of intestinal architecture, apoptotic enterocolitis, combined immunodeficiency, and various extraintestinal features related to the skin and/or hair. The focus of this review is to highlight trends in patient phenotypes and to consolidate functional data related to the role of TTC7A in maintaining intestinal homeostasis. TTC7A deficiency is fatal in approximately two thirds of patients, and, as more patients continue to be discovered, elucidating the comprehensive role of TTC7A could show druggable targets that may benefit the growing cohort of individuals suffering from inflammatory bowel disease.<br />Graphical abstract
- Subjects :
- 0301 basic medicine
Apoptosis
Review
Inflammatory bowel disease
HSCT, hematopoietic stem cell transplantation
0302 clinical medicine
Multiple Intestinal Atresia
Whole-Exome Sequencing
Immunodeficiency
Exome sequencing
P4KIIIalpha, phosphatidylinositol 4-kinase III alpha
Enterocolitis
CID, combined immunodeficiency
TPR, tetratricopeptide repeat
Incidence (epidemiology)
Gastroenterology
Phenotype
PI4K
3. Good health
Intestines
Treatment Outcome
Cohort
EFR3, Protein EFR3 (EFR3)
030211 gastroenterology & hepatology
medicine.symptom
Primary Immunodeficiency
Monogenic
TTC7A, tetratricopeptide repeat domain 7A
PI4P, phosphatidyl inositol 4 phosphate
Models, Biological
MIA, multiple intestinal atresia
03 medical and health sciences
Very Early Onset IBD
Genetics
medicine
Animals
Humans
ROCK, RhoA kinase
PIP, phosphatidyl inositol–phosphate lipid
Hepatology
business.industry
Inflammatory Bowel Disease
Proteins
medicine.disease
Disease Models, Animal
030104 developmental biology
Immunology
Primary immunodeficiency
business
TTC7B, tetratricopeptide repeat domain 7B
Subjects
Details
- ISSN :
- 2352345X
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- Cellular and Molecular Gastroenterology and Hepatology
- Accession number :
- edsair.doi.dedup.....9336b1aa70e2a9731dff3e19e45d2299