ArticleEuropean journal of human genetics : EJHG2016
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 30 citations in OpenAlex.
- Cryo-EM structures of human ABCB7 reveal the molecular basis of mitochondrial matrix heme export.Communications biology · 2026Article
- Regulatory networks of iron sulfur cluster biology in cancer mechanisms and therapeutic perspectives.iScience · 2026Review
- ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.Journal of personalized medicine · 2024Review
- Genetic Variant inInternational journal of molecular sciences · 2023Article
- Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.European journal of human genetics : EJHG · 2022Article
- Kazak mitochondrial genomes provide insights into the human population history of Central Eurasia.PloS one · 2022Article
- Conformational changes in the yeast mitochondrial ABC transporter Atm1 during the transport cycle.Science advances · 2021Article
- Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)Archives of biochemistry and biophysics · 2021Article
- The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review.Frontiers in pediatrics · 2021Article
- Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.International journal of molecular sciences · 2020Review
- Chronic Pressure Overload Results in Deficiency of Mitochondrial Membrane Transporter ABCB7 Which Contributes to Iron Overload, Mitochondrial Dysfunction, Metabolic Shift and Worsens Cardiac Function.Scientific reports · 2019Article
- The molecular genetics of sideroblastic anemia.Blood · 2019Review
- Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2018Review
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.Metallomics : integrated biometal science · 2018Review
- Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.Neurosciences (Riyadh, Saudi Arabia) · 2017Review
- [Advances in genes mutation and pathophysiology of congenital sideroblastic anemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2016Article
- Ataxia.Continuum (Minneapolis, Minn.) · 2016Review
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Authors and funding
12 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
X-linked congenital cerebellar ataxia is a heterogeneous nonprogressive neurodevelopmental disorder with onset in early childhood. We searched for a genetic cause of this condition, previously reported in a Buryat pedigree of Mongolian ancestry from southeastern Russia. Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ataxia. The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. Moreover, in these affected men we also found the genetic defects in two other genes closely linked to ABCB7 on chromosome X: a deletion of a genomic region harboring the second exon of copper-transporter gene (ATP7A) and a complete deletion of PGAM4 (phosphoglycerate mutase family member 4) retrogene located in the intronic region of the ATP7A gene. Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers. The role of the PGAM4 gene has been previously implicated in human reproduction, but our data indicate that its complete loss does not disrupt male fertility. Our finding links cerebellar pathology to the genetic defect in ABCB7 and ATP7A structural variant inherited as X-linked trait, and further reveals the genetic heterogeneity of X-linked cerebellar disorders.
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