Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.

Maria EleftheriadouEvita Medici-van den HerikKyra StuurmanYolande van BeverDebby M E I HellebrekersMarjon van SlegtenhorstGeorge RuijterTahsin Stefan Barakat

Published in: Molecular genetics & genomic medicine (2021)

As in our proband, trio whole exome sequencing did not establish an alternative secondary genetic diagnosis for autism, and reported long-term follow-up of IBDD patients is limited, it is possible that autism spectrum disorders could be one of the disease-associated features. Further long-term follow-up is suggested in order to delineate the full clinical spectrum associated with IBDD.

Keyphrases

autism spectrum disorder
end stage renal disease
intellectual disability
newly diagnosed
ejection fraction
chronic kidney disease
genome wide
peritoneal dialysis
attention deficit hyperactivity disorder
gene expression
dna methylation
patient reported outcomes
patient reported