脑腱黄瘤病中一种新的复合杂合CYP27A1变异:来自一个非近亲家庭的病例报告。

IF 0.9 4区 医学 Q4 GENETICS & HEREDITY
Hande Nur Cesur Baltacı, Burcu Sağlam Ada, Nüket Yürür Kutlay, Ajlan Tükün, Serap Tıraş Teber, Turgay Coşkun
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引用次数: 0

摘要

简介:脑腱黄瘤病(CTX)是一种罕见的常染色体隐性脂质储存疾病,其特征是胆固醇和胆固醇在各组织中积累。它是由CYP27A1基因的致病性变异引起的,该基因编码线粒体酶固醇27-羟化酶。病例介绍:在这里,我们报告一个8岁的男孩患有注意力缺陷/多动障碍,非近亲父母所生。在其母亲CYP27A1基因外显子6纯合缺失后,他被转介到我们中心进行CYP27A1基因分析和遗传咨询。他的血浆胆固醇水平也升高,支持CTX的诊断。先证者的父亲有癫痫史和轻度智力障碍。父亲的遗传分析显示CYP27A1基因中存在一个新的杂合p.(Glu170Valfs*16)变异。基于这些发现,发现先证者携带CYP27A1的复合杂合变异,证实了CTX的分子诊断。在遗传咨询后,开始使用鹅去氧胆酸(CDCA)治疗。治疗2个月后,血浆胆固醇水平恢复正常,部分临床症状有所改善。结论:症状前家族成员的早期遗传筛查至关重要,因为及时开始CDCA治疗可以预防或显著减轻CTX的临床进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family.

Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder characterized by the accumulation of cholesterol and cholestanol in various tissues. It is caused by pathogenic variants in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase.

Case presentation: Here, we present an 8-year-old boy with attention-deficit/hyperactivity disorder, born to non-consanguineous parents. He was referred to our center for CYP27A1 gene analysis and genetic counseling, following the identification of a homozygous deletion in exon 6 of the CYP27A1 gene in his mother. His plasma cholestanol levels were also elevated, supporting a diagnosis of CTX. The proband's father had a history of epilepsy and mild intellectual disability. Genetic analysis of the father revealed a novel heterozygous p.(Glu170Valfs*16) variant in the CYP27A1 gene. Based on these findings, the proband was found to carry a compound heterozygous variant in CYP27A1, confirming the molecular diagnosis of CTX. After genetic counseling, treatment with chenodeoxycholic acid (CDCA) was initiated. Plasma cholestanol levels normalized, and some clinical symptoms showed improvement after 2 months of treatment.

Conclusions: Early genetic screening of presymptomatic family members is critical, as timely initiation of CDCA therapy can prevent or significantly attenuate the clinical progression of CTX.

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来源期刊
Molecular Syndromology
Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.70
自引率
9.10%
发文量
67
期刊介绍: ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
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