Activity
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| Intestinal failure or congenital diarrhoea v3.17 | DUOX2 | Ida Ertmanska edited their review of gene: DUOX2: Changed phenotypes to: inflammatory bowel disease, MONDO:0005265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.17 | DUOX2 | Ida Ertmanska Phenotypes for gene: DUOX2 were changed from inflammatory bowel disease; MONDO:0005265 to inflammatory bowel disease, MONDO:0005265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.16 | DUOX2 | Ida Ertmanska Tag Q3_26_promote_green was removed from gene: DUOX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.16 | DUOX2 | Ida Ertmanska Classified gene: DUOX2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.16 | DUOX2 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic DUOX2 variants and very early onset IBD, including bloody diarrhea. However, these cases do not meet the Test Directory criterion of neonatal onset (first 28 days of life). Hence, the gene should remain Red on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.16 | DUOX2 | Ida Ertmanska Gene: duox2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.15 | DUOX2 |
Ida Ertmanska edited their review of gene: DUOX2: Added comment: PMID: 26301257 - 2 male probands, diagnosed with IBD / ulcerative colitis at 4.7 and 4.3 yrs. Het for DUOX2 missense variants. PMID: 28683258 - Male proband comp het for NM_014080.4:c.1825G>A; p.P609S and NM_014080.4:c.857G>A; R286H in DUOX2. He developed pancolitis with bloody diarrhea at the age of 3. PMID: 35429653 - report of a 1-year-old boy diagnosed with VEO-IBD after presenting with bloody diarrhea. He had pancolitis and an extensive small intestinal ulcerative lesion at age 4 years. PMID: 38075699 - Female proband diagnosed with IBD at 1 month. The infant was asymptomatic with no intestinal symptoms such as abdominal pain, rectal bleeding, perianal disease, diarrhea, or intestinal obstruction. The only sign of intestinal involvement was increased inflammatory markers.; Changed rating: RED |
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| Intestinal failure or congenital diarrhoea v3.15 | DUOX2 | Ida Ertmanska Classified gene: DUOX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.15 | DUOX2 | Ida Ertmanska Gene: duox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.14 | DUOX2 |
Ida Ertmanska gene: DUOX2 was added gene: DUOX2 was added to Intestinal failure or congenital diarrhoea. Sources: Literature Q3_26_promote_green tags were added to gene: DUOX2. Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DUOX2 were set to 26301257; 28683258; 35429653; 38075699 Phenotypes for gene: DUOX2 were set to inflammatory bowel disease; MONDO:0005265 Review for gene: DUOX2 was set to GREEN Added comment: Literature review by Boaz Palterer (University of Florence), copied from Primary immunodeficiency or monogenic inflammatory bowel disease: DUOX2 encodes Dual Oxidase 2, an H2O2-producing NADPH oxidase primarily expressed at the apical membranes of enterocytes, where it plays a critical role in maintaining intestinal microbial homeostasis and innate immune defense. While biallelic variants in DUOX2 are classically associated with congenital hypothyroidism (Thyroid dyshormonogenesis 6; OMIM 607200), a distinct phenotype linking DUOX2 deficiency to Inborn Errors of Immunity (IEI) and very early-onset inflammatory bowel disease (VEO-IBD) has been reported in several case reports. The initial association was reported when inactivating missense variants in DUOX2 were identified in VEO-IBD patients, resulting in significantly reduced reactive oxygen species (ROS) production by intestinal epithelial cells and defective host resistance to enteric pathogens like Campylobacter jejuni (Hayes et al., 2015). More recently, the phenotypic spectrum has been expanded to include monogenic neonatal-onset IBD. Patients with compound heterozygous DUOX2 variants have presented with severe intestinal inflammation and colon stenosis shortly after birth, displaying significantly decreased catalytic activity without concurrent clinical hypothyroidism (Finocchi et al, Kyodo et al. Crawford et al. ). Hayes described 2 patient with heterozgous DUOX2 VUS and VEOIBD https://pmc.ncbi.nlm.nih.gov/articles/PMC4539615/ Finocchi et al described 1 month old with VEOIBD with compound heterozygous VUS in DUOX2 https://pubmed.ncbi.nlm.nih.gov/38075699/ Kyodo et al. described 1 year old with VEOIBD with compound heterozygous VUS in DUOX2 https://pubmed.ncbi.nlm.nih.gov/35429653/ Crawford et al, additional case report: 5-year-old male with compound heterozygous VUS in DUOX2 https://rupress.org/jhi/article/1/CIS2025/CIS2025abstract.49/277486/Biallelic-DUOX2-Variants-and-the-Link-to-Very Sources: Literature |
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