Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia

Mohammadreza Hajjari; Maryam Tahmasebi-Birgani; Javad Mohammadi-Asl; Habib Nasiri; Abolghasem Kollaee; Mandana Mahmoodi; Hossein Ansari

doi:10.1016/j.gene.2019.05.016

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia

Gene. 2019 Aug 5:708:10-13. doi: 10.1016/j.gene.2019.05.016. Epub 2019 May 10.

Authors

Mohammadreza Hajjari¹, Maryam Tahmasebi-Birgani², Javad Mohammadi-Asl³, Habib Nasiri⁴, Abolghasem Kollaee⁵, Mandana Mahmoodi⁵, Hossein Ansari⁶

Affiliations

¹ Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
² Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences. Electronic address: [email protected].
³ Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences; Noor Genetics Lab., Ahvaz, Iran. Electronic address: [email protected].
⁴ Pediatric Department, Ahvaz Jundishapur University of Medical Sciences, Golestan Hospital, Golestan, Ahvaz, Iran.
⁵ Noor Genetics Lab., Ahvaz, Iran.
⁶ Department of Biotechnology, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran.

PMID: 31078656
DOI: 10.1016/j.gene.2019.05.016

Abstract

Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics laboratories. Here, we present ADCK3; del.CD (229-230) mutation in an Iranian consanguineous family with three cerebellar ataxic boys using whole exome sequencing. The mutation was predicted pathogenic and all the affected individuals were homozygous for the variant. Although, the ADCK3 was previously reported as one of the master genes of ARSC, our mutation was novel as has been not previously reported in dbSNP or literature.

Keywords: ADCK3 gene; Autosomal recessive cerebellar ataxia; Deletion; Whole exome sequencing.

MeSH terms

Consanguinity
Exome Sequencing
Female
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Iran
Male
Mitochondrial Proteins / genetics*
Pedigree
Sequence Deletion
Spinocerebellar Ataxias / genetics*

Substances

COQ8A protein, human
Mitochondrial Proteins