%0 Journal Article
%T A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
%A Tan Y
%A Tian H
%A Mai J
%A Wang H
%A Yang M
%A Liu S
%J Mol Genet Genomic Med
%V 12
%N 1
%D 2024 Jan 10
%M 37947113
%F 2.473
%R 10.1002/mgg3.2320
%X <B>BACKGROUND: </B>Patients with biallelic variants in the lanosterol synthase (LSS) gene has been reported to exhibit phenotypes as follows: non-syndromic form of hypotrichosis, congenital cataracts, and alopecia with intellectual disability or growth retardation. However, genotype-phenotype correlations in the LSS gene are still not completely clear.<BR><B>METHODS: </B>In this study, we reported a Chinese girl who had congenital cataracts with hypotrichosis. The trio exome sequencing was performed to elucidate the genetic cause of the patient.<BR><B>RESULTS: </B>We identified compound heterozygous variants (c.296G>A, p.G99D and c.1025T>G, p.I342S) in the LSS gene. Both variants altered the amino acid coding at highly conserved amino acid residues and were predicted to be deleterious using prediction software.<BR><B>CONCLUSIONS: </B>Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.