Histiocytosis-lymphadenopathy plus syndrome
OMIM:602782Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | SLC29A3 |
|---|---|
| Reference transcript | NM_018344.5 |
| DNA Change | c.1088G>A |
| A.A. Change | p.Arg363Gln |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Jonard L, Couloigner V, Pierrot S, Louha M, Gherbi S, Denoyelle F, Marlin S.Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. Eur J Med Genet. 2012 Jan;55(1):56-8. |