Retinitis pigmentosa 38
OMIM:613862Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | MERTK |
|---|---|
| Reference transcript | NM_006343.2 |
| DNA Change | c.2323C>T |
| A.A. Change | p.Arg775X |
| Exon/Intron | exon 17 |
| Mutation Type | substitution |
| Reference | Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. Eur J Ophthalmol. 2011 Dec 13:0. |
| Gene Symbol | MERTK |
|---|---|
| Reference transcript | NM_006343.2 |
| DNA Change | c.2189+1G>T |
| A.A. Change | skipping of exon 16 and premature truncation |
| Exon/Intron | intron 16 |
| Mutation Type | substitution |
| Reference | Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP.Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene. Br J Ophthalmol. 2009 Jul;93(7):920-5. |