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

El Hakim, Joelle / Mehawej, Cybel / Chouery, Eliane / Megarbane, Andre / El-Feghaly, Jinia / El Khoury, Jinane

Pediatric dermatology

2023  Volume 40, Issue 5, Page(s) 960–961

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 ... ...

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.
MeSH term(s) Child ; Female ; Humans ; Alopecia/genetics ; Eyebrows ; Hair ; Hypotrichosis/diagnosis ; Hypotrichosis/genetics ; Pedigree
Chemical Substances lanosterol synthase (EC 5.4.99.7)
Language English
Publishing date 2023-04-07
Publishing country United States
Document type Case Reports ; Journal Article
ZDB-ID 605539-4
ISSN 1525-1470 ; 0736-8046
ISSN (online) 1525-1470
ISSN 0736-8046
DOI 10.1111/pde.15320
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Zs.A 1882: Show issues Location:
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