Mokhtari Diana, Jahanpanah Mohammad, Jabbari Nasim, Azari Hamed, Davarnia Sana, Mokaber Haleh, Arish Sara, Molatefi Rasol, Abbasi Vahid, Davarnia Behzad
Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.
Department of Animal Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran.
Hum Genome Var. 2024 Aug 30;11(1):35. doi: 10.1038/s41439-024-00292-x.
Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs.
遗传性共济失调根据遗传模式分为常染色体显性、常染色体隐性、X连锁和线粒体遗传模式。一大类成人遗传性共济失调具有常染色体显性遗传，而常染色体隐性小脑共济失调（ARCA）较为罕见，其表型和基因型特征具有更大的多样性。因此，全面的基因检测有助于识别导致ARCA的基因。我们通过全外显子组测序在ARCA患者中鉴定出SQSTM1和SYNE1基因的两个新的致病变体。
