Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene.

Abstract

To date, more than 15 genes have been linked to syndromic and non-syndromic hypotrichosis, among which the LSS gene encoding lanosterol synthase was recently linked to autosomal recessive isolated hypotrichosis. Here we report the case of a 6-year-old girl born to non-consanguineous Iraqi parents and presenting with sparse lanugo hair since birth on the scalp, eyelashes, and eyebrows. Whole exome sequencing followed by Sanger sequencing allowed the detection of two novel compound heterozygous variants in LSS (p.Ile323Thr and p.Gly600Val). Reporting and investigating further cases with LSS variants might help establishing a better genotype-phenotype correlation.

• Authors: Joelle El Hakim, Cybel Mehawej, Eliane Chouery, Andre Megarbane, Jinia El-Feghaly, Jinane El Khoury
• Journal: Pediatric dermatology (Pediatr Dermatol) 2023 Sep-Oct Vol. 40 Issue 5 Pg. 960-961 ISSN: 1525-1470 [Electronic] United States
• PMID: 37029088 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2023 Wiley Periodicals LLC.

Chemical References

• lanosterol synthase

Topics

• Child
• Female
• Humans
• Alopecia (genetics)
• Eyebrows
• Hair
• Hypotrichosis (diagnosis, genetics)
• Pedigree