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 1. De novo likely pathogenic variants identified in the proband.

Gene	Transcript	Chromosome	Coordinate	c.DNA	Protein	gnomAD frequency	Classification	ACMG criteria	Variant depth
	NM_024852.4	1	36479567	c.1324C>T	p.Gln442*	N/A	Presumably deleterious	PM2, Presumably PVS1	21
	NM_001366299.1	19	6416334	c.1573C>T	p.Gln525*	N/A	Presumably deleterious	PM2, Presumably PVS1	14

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