Molecular characteristics

The LAMB1 gene encodes the β1 chain of the laminins, a component of basement membranes.

Genetic testing
Mutations in LAMB1 can be identified using molecular genetic testing, either directly by sequencing of the LAMB1 gene or by exome/genome sequencing.

Molecular characteristics
All pathogenic variations associated with this phenotype clustered at the terminal part of the gene and led to premature stop codons predicted to escape NMD and to the production of an abnormal end-truncated protein.