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

12 July 2024 : Case report USA

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

Introduction Case Report Discussion Conclusions References:

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Table 2. Primer for Sanger sequencing AGO3 and KHSRP.

Primer sequence	Position
Ago3_F: 5’-GAGTATGGGACATGCGAGGG -3’	exon 11
Ago3_R: 5’-TGCTGGAACACAGAAGGTCTTT -3’	exon 13/14 junction
Khsrp_F: 5’-ATAAACCAGCAGACGGGAG -3’	exon 14
Khsrp_R: 5’-GGCTGCTGGTAGTAGTGTGA -3’	exon 17

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