Currently, molecular diagnostics in LDS patients most typically involves gene panel sequencing or exome sequencing. The majority of the LDS5-causing TGFB3 mutations consist of missense mutations (60%), whereas 20% are frameshift mutations, 13% are nonsense mutations, and 7% of mutations affect a splice site. Because of the frequent occurrence of truncating mutations, it is hypothesized that TGFB3 mutations lead to loss of function of the encoded protein.
TGFB3