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Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2020-01-06 , DOI: 10.1186/s12881-019-0922-8
Yinsen Song 1 , Zhengping Dong 2 , Shuying Luo 3 , Junmei Yang 1 , Yuebing Lu 3 , Bo Gao 4 , Tianli Fan 5
Affiliation  

BACKGROUND Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. CASE PRESENTATION Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. CONCLUSION A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient's parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases.

中文翻译:

LYST基因中复合杂合子的鉴定:Chediak-Higashi综合征的一例报道。

背景技术Chediak-Higashi综合征(CHS)是一种罕见的常染色体隐性遗传疾病,由溶酶体运输调节蛋白的功能丧失引起。致病基因LYST / CHS1于1996年被克隆并鉴定,与其他物种如牛和小鼠具有显着的同源性。迄今为止,已经报道了74种致病或可能的致病突变。病例介绍在这里,我们描述了LYST基因中的一种复合杂合子,该杂合子是在4岁的女性患者中发现的。在临床检查中,患者表现出皮肤色素沉着,对光敏感,轻度脾肿大和血小板减少。在骨髓检查中观察到巨大的胞浆内包涵体,提示CHS的诊断。进行扩增子测序以检测LYST基因中的致病性突变。基于Sanger测序的两代谱系分析证实了该结果。结论通过扩增子测序,从患者中鉴定出LYST基因中的一种杂合子,由错义突变c.5719A> G和内含子突变c.4863-4G> A组成。首次报告了错义突变。两代谱系分析显示这两个突变分别来自患者的父母。我们的结果表明,扩增子测序具有加速和改善罕见遗传病诊断的巨大潜力。首次报道了错义突变。两代谱系分析显示这两个突变分别来自患者的父母。我们的结果表明,扩增子测序具有加速和改善罕见遗传病诊断的巨大潜力。首次报道了错义突变。两代谱系分析显示这两个突变分别来自患者的父母。我们的结果表明,扩增子测序具有加速和改善罕见遗传病诊断的巨大潜力。
更新日期:2020-01-06
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