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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.
CONCLUSIONS: 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.
CONCLUSIONS: Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.
摘要：
背景：据报道，在羊毛甾醇合酶（LSS）基因中具有双等位基因变异体的患者表现出如下表型：非综合征性低毛症，先天性白内障,和有智力残疾或发育迟缓的脱发。然而,LSS基因的基因型-表型相关性仍不完全清楚。
方法：在本研究中，我们报道了一名患有先天性白内障伴低毛症的中国女孩。进行三外显子组测序以阐明患者的遗传原因。
结果：我们鉴定了复合杂合变体（c.296G>A，p.G99D和c.1025T>G，p.I342S)在LSS基因中。两种变体在高度保守的氨基酸残基处改变了氨基酸编码,并且使用预测软件预测为有害的。
结论：我们的报告扩展了LSS基因的变异谱，将有助于基因型-表型相关性研究。
方法：在本研究中，我们报道了一名患有先天性白内障伴低毛症的中国女孩。进行三外显子组测序以阐明患者的遗传原因。
结果：我们鉴定了复合杂合变体（c.296G>A，p.G99D和c.1025T>G，p.I342S)在LSS基因中。两种变体在高度保守的氨基酸残基处改变了氨基酸编码,并且使用预测软件预测为有害的。
结论：我们的报告扩展了LSS基因的变异谱，将有助于基因型-表型相关性研究。
