Molecular genetics & genomic medicine · 2023
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
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Tan Yu, Tian Huan, Mai Jingqun, Wang He, Yang Mei, Liu Shanling
Аннотация
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.
METHODS: 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.
RESULTS: 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.
CONCLUSION: Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.