Publication: Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
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Romano, M.-T., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmüller, J., Nürnberg, P., Ellwanger, J., Gambon, R., Baumer, A., & et al. (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. American Journal of Human Genetics, 103(5), 777–785. https://doi.org/10.1016/j.ajhg.2018.09.011
Abstract
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Abstract
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although research has identified a number of causal genes, genetic etiology in about 50% of HS cases remains unknown. The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS. Affected individuals showed sparse to absent lanugo-like scalp hair, s
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- Romano, Maria-Teresa
- Tafazzoli, Aylar
- Mattern, Maximilian
- Sivalingam, Sugirthan
- Wolf, Sabrina
- Rupp, Alexander
- Thiele, Holger
- Altmüller, Janine
- Nürnberg, Peter
- Ellwanger, Jürgen
- Gambon, Reto
- Baumer, Alessandra
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Romano, M.-T., Tafazzoli, A., Mattern, M., Sivalingam, S., Wolf, S., Rupp, A., Thiele, H., Altmüller, J., Nürnberg, P., Ellwanger, J., Gambon, R., Baumer, A., & et al. (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. American Journal of Human Genetics, 103(5), 777–785. https://doi.org/10.1016/j.ajhg.2018.09.011
