Background: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited.
Case presentation: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues.
Conclusions: We concluded that the mutations affect the structural stability of the protein to some extent.
Keywords: LSS gene mutation; chromosome microarray analysis; congenital cataract.