ITGB4-Related pyloric atresia without epidermolysis in two siblings

Pyloric atresia is a rare gastrointestinal anomaly with an incidence of 1/100,000 in live births. It is usually seen as an isolated condition or in combination with other congenital or hereditary anomalies. Autosomal recessive inherited either fatal or non-fatal variants of pyloric atresia with epidermolysis bullosa are known due to mutations in ITGA6, ITGB4, and PLEC genes. ITGB4 gene mutation was recently identified in 5 siblings in 2 families associated with familial isolated pyloric atresia. Herein, we present two siblings who had pyloric atresia together with a homozygous variant in the ITGB4 gene and without epidermolysis bullosa. The development of isolated familial pyloric atresia without epidermolysis bullosa may occur due to homozygous variants of the ITGB4 gene. Detection of more variants in this gene may help to establish a genotype-phenotype correlation and may suggest the ITGB4 gene in patients who have pyloric atresia without epidermolysis bullosa.