ClinVar

In a child with lathosterolosis (LATHOS; 607330), Ho et al. (2014) identified compound heterozygosity for 2 mutations in the SC5D gene: a c.630C-A transversion (c.630C-A, NM_006918.4), resulting in an asp210-to-glu (D210E) substitution, and a c.442A-G transition, resulting in a lys148-to-glu (K148E; 602286.0005) substitution. Each parent was heterozygous for one of the mutations. Neither variant was present in the dbSNP database or in 150 normal controls. Patient fibroblasts grown on lipid-depleted medium showed elevated concentrations of lathosterol and its precursor, 8,9-cholestenol. Fibroblast staining for filipin showed a 'variant' cholesterol storage pattern, and perinuclear cholesterol content was moderately elevated.

In a 10-year-old boy with lathosterolosis, Anderson et al. (2019) identified compound heterozygosity for 2 mutations in the SC5D gene: the D210E mutation and a c.479C-G transversion resulting in a pro160-to-arg (P160R; 602286.0006) substitution. Both mutations occur at highly conserved residues. Each parent was heterozygous for one of the mutations. The mutations were identified by next-generation sequencing of a panel of genes associated with congenital or childhood cataracts. Both variants were rare in the gnomAD database.