Trigenic // mutations in myelodysplasia with Usher syndrome.

Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic // pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome. Whole genome sequencing of peripheral blood from the patient and his parents were applied to identify disease-causing genes. Sanger sequencing was performed to validate the identified // variants. Our results identified disease-associated variants in (disease inheritance autosomal recessive) and in (disease inheritance also autosomal recessive) and a variant in (disease inheritance autosomal dominant). Although the variants identified in and have been reported, their co-existence in association with disease-causing variation in a third gene has not. They broaden the spectrum of in Usher syndrome. Findings on next generation sequencing guided rapid and accurate diagnosis, resulting in patient-tailored therapeutic intervention.