Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis

Mario Ćuk; Luka Lovrenčić; Busra Unal; McKenzie Walker; Connor P. Hayes; Goran Krakar; Robert Beluzić; Ivona Sansović; Goran Pavliša; Arezou A. Ghazani

doi:10.12659/AJCR.943641

12 July 2024 : Case report USA

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis

Challenging differential diagnosis, Rare disease, Clinical situation which can not be reproduced for ethical reasons

Mario Ćuk^1ADEFG, Luka Lovrenčić

^1CDEF, Busra Unal^2CDEF, McKenzie Walker^2CDE, Connor P. Hayes

^2CDE, Goran Krakar^3DEF, Robert Beluzić^4DEF, Ivona Sansović^5DEF, Goran Pavliša^6DEF, Arezou A. Ghazani^278ABDEFG*

DOI: 10.12659/AJCR.943641

Am J Case Rep 2024; 25:e943641

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Figure 5. Results of Sanger sequencing of AGO3 (left) and KHSRP (right) cDNA in the proband and her parents. Heterozygote variants are shown on the electropherogram in the proband, and wild-type sequences in her parents. Variant sites are marked with stars.

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Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis

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