Sjögren-Larsson Syndrome (SLS)
Summary
Sjögren-Larsson syndrome is a neurocutaneous disorder caused by deficiency of fatty aldehyde dehydrogenase, an enzyme involved in the metabolism of fatty alcohols and fatty aldehydes. Toxic fatty aldehydes accumulate in skin and brain.
Practical takeaway
Primarily relevant if your partner is of Swedish descent (especially from Västerbotten County in northern Sweden). Carrier testing is available. Realised does not calculate reproductive risk or advise on reproductive decisions.
Evidence detail
What Carrier Status Means For You
You are not affected. One working copy of ALDH3A2 is sufficient. Standard 25/50/25 recessive inheritance applies.
Population Context
The P315S variant is a Swedish founder mutation concentrated in Västerbotten County, where carrier frequency reaches ~1 in 50. Named after Swedish physicians Torsten Sjögren and Tage Larsson who described it in 1957. Cases have been reported worldwide with other ALDH3A2 variants, but at much lower frequencies.
Limitations
23andMe tests 1 ALDH3A2 variant. Coverage limited to the Swedish founder mutation. Comprehensive testing recommended for non-Swedish individuals.