Affiliation:
1. Department of Medical Genetics West China Second University Hospital, Sichuan University Chengdu Sichuan China
2. Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University Chengdu Sichuan China
Abstract
AbstractBackgroundPatients 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.MethodsIn 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.ResultsWe 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.ConclusionOur report expands the spectrum of variants in the LSS gene and will be helpful for genotype–phenotype correlations study.
Subject
Genetics (clinical),Genetics,Molecular Biology