PRENATAL GENETIC TESTING FOR MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME CAUSED BY IBA57 GENE MUTATION KAZAKHSTANI FAMILY: A CASE REPORT

Aidana Gabdulkayum, Zhanel Z. Mirmanova, Tomiris Kadenova, Mirgul Bayanova, Lyazzat Nazarova, Aidos K. Bolatov, Adil Y. Yerezhepov, Akbota M. Aitkulova, Ainur R. Akilzhanova, Dauren Yerezhepov

2026

Full text Open access: Gold Metadata (CSL-JSON)
DOI 10.26577/bb106120265
Data confidence 85 high
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Abstract

Mitochondria, commonly known as the cell’s power generator, carry out their primary function through oxidative phosphorylation (OXPHOS), a process that produces ATP, the main energy source of the cell and the only cell organelles with their own mitochondrial DNA. Any genetic alterations in DNA sequences that encode mitochondrial structural or functional proteins may cause mitochondrial disorders. Multiple mitochondrial dysfunction syndrome type 3 (MMDS3) is a rare autosomal recessive mitochondrial disorder caused by homozygous or biallelic pathogenic variants in the IBA57 gene. In the current study, we present a case report on prenatal genetic testing for multiple mitochondrial dysfunction syndrome (MMDS) type 3 caused by the IBA57 gene to highlight the importance of prenatal diagnostics for disease prognosis and treatment, appropriate genetic counselling, and informed reproductive decision-making. We recruited a 27-year-old G2P1001 at 22 weeks’ gestation with MMDS3 in family history, confirmed by whole exome sequencing (WES) and also verified by Sanger sequencing in the IBA57 gene c.286T>C (NM_001010867.4, p.Tyr96His) and c.667C>G (NM_001010867.4, p.Arg223Gly) in the proband and parents. The ccfDNA genetic test revealed the absence of the heterozygous IBA57 gene variant at position c.286T>C (NM_001010867.4, p.Tyr96His), but the heterozygous IBA57 gene variant at position c.667C>G (NM_001010867.4, p.Arg223Gly) was detected. The child is a heterozygous carrier of the genetic variant of the IBA57 gene at position c.667C>G (NM_001010867.4, p.Arg223Gly). No specific treatment is required; observation by a pediatrician and medical and genetic counseling of the couple when planning the next pregnancy are recommended. The IBA57 gene-related MMDS3 can have a wide range of outcomes and consequences and may progress rapidly. Early awareness is crucial to prompt and proper administration. Our study reveals the importance of early prenatal genetic testing for IBA57-related MMDS3 for early diagnostics and consent decision-making.