A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
LSS
congenital cataracts
exome sequencing
genetic diagnosis
hypotrichosis
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
10 Nov 2023
10 Nov 2023
Historique:
revised:
14
08
2023
received:
16
06
2023
accepted:
25
10
2023
medline:
10
11
2023
pubmed:
10
11
2023
entrez:
10
11
2023
Statut:
aheadofprint
Résumé
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. 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. 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. Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2320Informations de copyright
© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
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