Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.
Maya Atanasoska, Lubomir Balabanski, Daniela Avdjieva-Tzavella et al.
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Case in brief
A 5-year-old boy with neurodevelopmental delay had skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing was nondiagnostic. Reanalysis six months later identified two rare predicted loss-of-function ABCA13 variants in trans: the frameshift c.2510del, p.(Leu837TyrfsTer21), and the nonsense variant c.12064C>T, p.(Arg4022Ter). The findings support a possible contribution of biallelic ABCA13 disruption to his neurodevelopmental presentation; the report does not establish causality.
What made this case unusual
The diagnostic finding was a compound heterozygous pair of predicted loss-of-function ABCA13 variants, in contrast to prior reports that had largely considered heterozygous variants under a possible dominant or susceptibility model.
Diagnostic / clinical pearl
A nondiagnostic initial genome analysis may warrant reanalysis; in this case, reanalysis identified two ABCA13 variants in trans and raised a possible recessive disease model.
Why it matters
The case adds to the emerging ABCA13 phenotype and supports further evaluation of biallelic variants in patients with intellectual disability or neurodevelopmental delay.