具有新突变的新定义过氧化物酶体疾病。
Newly defined peroxisomal disease with novel mutation.
作者信息
Gorukmez Ozlem, Havalı Cengiz, Gorukmez Orhan, Dorum Sevil
机构信息
Department of Medical Genetics, Bursa Yüksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Department of Pediatrics, Division of Neurology, Bursa Yüksek Ihtisas Training and Research Hospital, Bursa, Turkey.
出版信息
J Pediatr Endocrinol Metab. 2021 Oct 20;35(1):11-18. doi: 10.1515/jpem-2020-0352. Print 2022 Jan 27.
Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 (NM_145698.4) gene using Clinical Exome Sequencing (Sophia Genetics).
过氧化物酶体疾病是由大量基因突变引起的一组异质性疾病。近年来已描述的已知导致这种情况的遗传性疾病之一是ACBD5（含酰基辅酶A结合结构域5）基因突变。在此，我们报告了使用临床外显子组测序（索菲亚遗传学公司）检测到的两例携带ACBD5（NM_145698.4）基因新型纯合无义变异（c.1297C>T，p.Arg433*）的同胞。
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