Cure8 research brief
Finding monogenic causes in infants with congenital diarrheas or VEOIBD can directly affect diagnosis, genetic counseling, and management. Populations with higher consanguinity may have higher diagnostic yields for recessive monogenic disorders.
Pediatric patients and their parents/caregivers, pediatric gastroenterologists and clinicians, genetic counselors, and researchers interested in genetics of IBD and congenital enteropathies.
The investigators performed trio whole exome sequencing on 27 children (13 with CoDE, 14 with VEOIBD). A likely monogenic cause was found in 10 of 13 CoDE patients (genes reported included EPCAM, SPINT2, DGAT1, MYO5B, STXBP2) and in 1 of 14 VEOIBD patients (SKIV2L).
The CoDE group had a much higher rate of self-reported consanguinity and homozygosity mapping than the VEOIBD group, which likely contributed to the higher diagnostic yield. The report is an abstract-based summary of a limited, region-specific cohort and focuses on diagnostic yield and genetic findings rather than treatment outcomes.
Genetic testing (trio WES) was the central method.
The classification and summary are grounded in the article abstract. Cohort size is small (27 trios) and region-specific; results may not generalize. This is an abstract-level summary, not a full critical appraisal.
Review the original publication for the complete reporting, methods, and context.
This Cure8 brief is based on source text from the linked article. Cure8 is informational only and is not a substitute for professional medical advice, diagnosis, or treatment.
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