The usefulness of whole-exome sequencing in routine clinical practice
Original research article by A. Iglesias et al. (2014)
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In this study, 115 people (mostly children, but some adults) were evaluated at Columbia University Medical Center and were tested using whole-exome sequencing to identify the causes of many different health problems (for example, birth defects, developmental delay, seizures, hearing loss, behavioral differences, heart problems). Diagnoses were made in 37 cases (32.2%), including one participant who had a change in the DYRK1A gene not inherited from either parent (de novo). Changes in this gene have been associated with intellectual disability in the past, and this patient also had features of a smaller-than-average head size (microcephaly), small size during pregnancy (intrauterine growth retardation), subtle differences in facial features like long eyelashes and anteriorly rotated ears, as well as developmental delay.