Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Two patients carrying novel LOF mutations in other retinal disease genes
| Patient ID | Disease presentation | Gene | Previously reported disease | Type | Mutations |
|---|---|---|---|---|---|
| 3494 | LCA | ALMS1 | Alström syndrome | Compound Heterozygous | c.2996C>G, p.S999X |
| c.11410C>T, p.R3804× | |||||
| 3688 | LCA | RPGR | X-linked RP | Hemizygous | c.248–1G>T |
LCA, Leber congenital amaurosis; LOF, loss-of-function; RP, retinitis pigmentosa.
