P372: Genetic evaluation of short stature: Examination of ordering practices and diagnostic yield

Trio-based exome sequencing have been used for the genetic diagnoses of the patient.Genomic analysis of the patient was performed based on the Initiative on Rare and Undiagnosed Disease (IRUD) project in Japan to provide an accurate diagnosis, discover causes, and ultimately provide cures for rare and undiagnosed diseases.Results: A de novo heterozygous pathogenic variant DACH1 (p.Ser673Arg*fs5) was revealed.This variant is not registered in general databases and is considered pathogenic.Conclusion: The Dach1 gene is expressed in the inner ear of normal mouse embryos.It was reported that inner ear-specific Dach1-KD mature mice showed hearing impairment and inner ear abnormality.DACH1 is expressed in kidney, where it is robustly expressed in the podocyte nucleus.It was reported that DACH1 is indispensable for maintaining the normal integrity of mature podocytes.These findings may potentially explain the hearing loss and renal dysfunction in this patient.Further research and accumulation of cases are required for this condition to be recognized as a novel syndrome.