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• W4311692308 abstract "Abstract Background: Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of ATAD3A- related disorders is also challenging due to three paralogous genes in the ATAD3 locus, making it a difficult target for both sequencing and CNV analyses. Results: Here we report four individuals from two families with compound heterozygous p.Leu77Val and exon 3–4 deletion in the ATAD3A gene. One of these patients was characterized as having combined OXPHOS deficiency based on decreased complex IV activities, decreased complex IV, I, and V holoenzyme content, as well as decreased levels of subunits of all complexes and decreased rate of mitochondrial proteosynthesis. All four reported patients shared a strikingly similar clinical picture to a previously reported patient with the p.Leu77Val variant in combination with a null allele. They presented with a less severe course of the disease and a longer lifespan than in the case of biallelic loss-of-function variants. This consistency of the phenotype in otherwise clinically heterogenous disorder led us to the hypothesis that the severity of the phenotype could depend on the severity of variant impact. To follow this rationale, we reviewed the published cases and sorted the recessive variants according to their impact predicted by their type and the severity of the disease in the patients. Conclusion: The clinical picture and severity of ATAD3A -related disorders are dependent on the type of mutation and correlate with the predicted severity of the variants and their combinations. This knowledge can enable faster diagnosis and allow more accurate prognosis estimation, as well as a better understanding of the ATAD3A function." @default.
• W4311692308 created "2022-12-28" @default.
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• W4311692308 date "2022-12-16" @default.
• W4311692308 modified "2023-10-15" @default.
• W4311692308 title "Severity of ATAD3A-related pontocerebellar hypoplasia correlates with the severity of pathogenic variants" @default.
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• W4311692308 doi "https://doi.org/10.21203/rs.3.rs-2329718/v1" @default.
• W4311692308 hasPublicationYear "2022" @default.
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