Intestinal failure or congenital diarrhoea

Gene: ADAM17

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.

Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

PMID: 22010916 - reports 2 siblings with autosomal recessive neonatal inflammatory skin and bowel lesions. Diarrhea developed in the first week of life. A homozygous 4 bp deletion in exon 5 of ADAM17 was identified that segregated with the disease in this family. PMID: 34993966 - report a patient with neonatal inflammatory skin and bowel disease 1 (NISBD1) featuring erythroderma, atrichia, nail dystrophy, esophageal strictures, intractable diarrhea, profound failure to thrive and recurrent cutaneous and systemic infections. Compound heterozgous changes (a large genomic deletion spanning exons 6 and 7 and a splice site variant causing exon 17 skipping) affecting ADAM17 were identified in the patient. PMID: 33953303 - 2 siblings with NISBD1 caused by functionally confirmed compound heterozygous missense variants of ADAM17. The patients had clinical features of NISBD1, such as erythroderma with exudate in whole body, recurrent skin infection and sepsis and prolonged diarrhoea.

Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48