A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene

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 i...

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Published in:Molecular genetics & genomic medicine 2024-01, Vol.12 (1), p.e2320-n/a
Main Authors: Tan, Yu, Tian, Huan, Mai, Jingqun, Wang, He, Yang, Mei, Liu, Shanling
Format: Article
Language:English
Subjects:
Alopecia - genetics
Amino Acids
Cataract - genetics
Cataracts
congenital cataracts
Congenital diseases
exome sequencing
Female
Genetic counseling
genetic diagnosis
Genomics
Genotypes
Growth rate
Hair
Humans
hypotrichosis
Hypotrichosis - genetics
Intellectual disabilities
Intramolecular Transferases
Lanosterol
Lanosterol synthase
LSS
Mutation
Patients
Phenotypes
Predictions
Proteins
Software
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Summary: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. We identified new compound heterozygous variants (c.296G>A, p.G99D and c.1025T>G, p.I342S) in the LSS gene for a patient, which expands the spectrum of variants in this gene. And we also summarized observed phenotypes and corresponding variants in the LSS gene identified so far and tried to figure out genotype–phenotype correlations.
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.2320