Non‐syndromic hypotrichosis: A report of two novel variants in the <scp><i>LSS</i></scp> gene-Reference-Cited by-同舟云学术

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

Published:2023-04-07 Issue:5 Volume:40 Page:960-961
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

El Hakim Joelle¹^ORCID,Mehawej Cybel²^ORCID,Chouery Eliane²^ORCID,Megarbane Andre²³^ORCID,El‐Feghaly Jinia⁴^ORCID,El Khoury Jinane¹^ORCID

Affiliation:

1. Department of Dermatology, Gilbert and Rose‐Marie Chagoury School of Medicine Lebanese American University Beirut Lebanon

2. Department of Human Genetics, Gilbert and Rose‐Marie Chagoury School of Medicine Lebanese American University Beirut Lebanon

3. Institut Jérôme Lejeune Paris France

4. Departments of Dermatology and Pediatrics University of Rochester School of Medicine and Dentistry Rochester New York USA

Abstract

AbstractTo 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.

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15320

Reference5 articles.

1. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

2. Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes