SLC7A14 – Retinitis Pigmentosa

SLC7A14 is a cationic amino acid transporter gene recently implicated in autosomal recessive Retinitis Pigmentosa. A targeted exome sequencing study in 200 unrelated AR or sporadic IRD families identified compound heterozygous missense variants (c.988G>A (p.Gly330Arg); c.1970G>A (p.Arg657Gln)) in one AR RP proband (PMID:30924391). Both residues are evolutionarily conserved within transmembrane helices and predicted deleterious by in silico tools, but no segregation or additional probands have been reported.

In contrast, a cohort screen of 146 Japanese AR/sporadic RP patients found only heterozygous nonsynonymous SLC7A14 variants with no homozygous or compound heterozygotes, suggesting these variants are rare and likely non-pathogenic in this population (PMID:27028480). Functional support is limited to in silico predictive modeling without in vivo or rescue studies. Collectively, the data yield limited evidence for SLC7A14 in AR RP, underscoring the need for replication in larger cohorts and mechanistic validation. Key take-home: current evidence is insufficient for routine clinical testing of SLC7A14 in retinitis pigmentosa.

References

• Ophthalmic Genetics | 2017 | Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa. PMID:27028480
• Ophthalmic Genetics | 2019 | Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. PMID:30924391

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