Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Tan Y

PROVIDER: S-EPMC10767675 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature

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Publications

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

Tan Yu Y Tian Huan H Mai Jingqun J Wang He H Yang Mei M Liu Shanling S

Molecular genetics & genomic medicine 20231110 1

<h4>Background</h4>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.<h4>Methods</h4>In this study, we reported a Chinese girl who had congenital cataracts with hypotrichosis. The trio exome sequencing was performed ...[more]

PMID: 37947113

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Project description:PurposeThe gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies.MethodsDNA samples of 161 patients with LCA without genetic diagnosis were analyzed for variants in NMNAT1 using Sanger sequencing. Variants in exon 5 of NMNAT1, which harbors the majority of the previously identified mutations, were screened in 532 additional patients with retinal dystrophies. This cohort encompassed 108 persons with isolated or autosomal recessive cone-rod dystrophy (CRD), 271 with isolated or autosomal recessive retinitis pigmentosa (RP), and 49 with autosomal dominant RP, as well as 104 persons with LCA in whom the causative mutation was previously identified.ResultsCompound heterozygous alterations were found in six patients with LCA and in one person with early-onset RP. All except one carried the common p.E257K variant on one allele. Macular atrophy was absent in one patient, who carried this variant in combination with a truncating mutation on the other allele. The p.E257K alteration was also found in a heterozygous state in five individuals with LCA and one with RP while no mutation was detected on the other allele. Two individuals with LCA carried other NMNAT1 variants in a heterozygous state, whereas no NMNAT1 variants in exon 5 were identified in individuals with CRD. The p.E257K variant was found to be enriched in a heterozygous state in individuals with LCA (0.94%) compared to Caucasian controls (0.18%), although the difference was statistically insignificant (p=0.12).ConclusionsAlthough macular atrophy can occur in LCA and CRD, no NMNAT1 mutations were found in the latter cohort. NMNAT1 variants were also not found in a large group of patients with sporadic or autosomal recessive RP. The enrichment of p.E257K in a heterozygous state in patients with LCA versus controls suggests that this allele could act as a modifier in other genetic subtypes of LCA.

Dataset Information

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

Background

Methods

Results

Conclusion

Publications

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

Similar Datasets

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