Prenatal Identification of a Novel <scp> <i>ITGB4</i> </scp> Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report

Homozygous or compound heterozygous mutations in the <i>ITGB4</i> gene are associated with the pathogenesis of junctional epidermolysis bullosa, characterized by increased fragility of the skin and mucous membranes. The prenatal diagnosis of this condition continues to represent a rare occurrence and a significant clinical challenge. A pregnant woman in her third decade underwent second-trimester screening, which revealed elevated alpha-fetoprotein levels, suggestive of a high risk for open neural tube defects. Comprehensive ultrasonographic evaluation revealed multiple fetal anomalies, including bilateral agenesis of the auricular structures, a shortened nasal bone, a flattened nasal tip, cutaneous disruptions in the abdominal and gluteal regions, and cystic fluid accumulation around the external genitalia. Amniocentesis was performed at 20 weeks of gestation to obtain amniotic fluid for genetic analysis. Family based whole exome sequencing identified compound heterozygous mutations in the <i>ITGB4</i> gene (c.794dupC, c.1882delG) inherited parents, with the c.1882delG variant being a novel mutation not previously documented. Elevated maternal serum alpha-fetoprotein levels may represent a promising biomarker for the prenatal screening of junctional epidermolysis bullosa. This study reports a novel frameshift mutation in the <i>ITGB4</i> gene, thereby expanding the known mutational spectrum of this disorder.