LTV1 mutations & a novel poikiloderma-like disorder (LIPHAK syndrome)
A new study published in Human Molecular Genetics identified rare biallelic variants in LTV1 (a gene which encodes one of the ribosome biogenesis factors), within four individuals (from two families) who express inflammatory poikiloderma with hair abnormalities and acral keratoses. Various analyses (high-resolution mapping, minigene-driven splicing, yeast model) showed this previously undescribed recessive dermatological condition, named LIPHAK, could be a previously unrecognized ribosomopathy.
- Hum Mol Genet . 2022 Jun 22;31(12):1970-1978