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

ConclusionAs 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.

Source: Molecular Genetics & Genomic Medicine - January 11, 2021 Category: Genetics & Stem Cells Authors: Maria Eleftheriadou, Evita Medici ‐ van den Herik, Kyra Stuurman, Yolande Bever, Debby M. E. I. Hellebrekers, Marjon Slegtenhorst, George Ruijter, Tahsin Stefan Barakat Tags: CLINICAL REPORT Source Type: research