The clinical characteristics and genotype analysis of LAMB2 gene mutation

Mutations in the <i>LAMB2</i> gene primarily manifest as steroid-resistant or congenital nephrotic syndrome, often accompanied by ocular abnormalities, suggesting a strong likelihood of this disease. The results of genetic testing offer a foundational basis for clinical diagnosis. The identification of a new mutation site in this case expands the known spectrum of mutations in the <i>LAMB2</i> gene. Unfortunately, the prognosis associated with this condition is generally poor.