Tehran University of Medical Sciences Case Reports in Clinical Practice 2538-2683 9 3 2024 12 08 108 113 EN Shweta Jangam Biomedical Genetics, Greenarray Genomic Research and Solutions, a Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India. Manju Kurup Greenarray Genomic Research and Solutions, a Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India. Preeti Arora Microbiology, Research Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India. Shruti Jawale Research Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India. Prashant Duraphe Shikhana Prasaraka Mandali’s Late Prin. B. V. Bhide Foundation, Pune, Maharashtra, India. Sanjay Gupte Research Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India. AND Gupte Hospital, Postgraduate Institution and Centre of Research in Reproduction, Pune, India. 2024 08 12 2024 10 27 In the present case report, we have found a novel variant for TRIOBP in a patient with congenital hearing loss. The patient is an 8-year-old female with hearing loss, the first child of consanguineous parents. To identify the underlying genetic defect, whole genome sequencing was performed. Carrier screening of the parents was also conducted. The results showed a homozygous autosomal recessive missense c.5849C>T (p.Pro1950Leu) variant in exon 16 of the TRIOBP gene. To our knowledge, this variant has not been previously reported as either a pathogenic or a benign variant. The novel TRIOBP variant found in the present study broadens the range of TRIOBP mutations implicated in hearing loss. Accordingly, the results of this study may be important for genetic counseling. https://crcp.tums.ac.ir/index.php/crcp/article/view/979 https://crcp.tums.ac.ir/index.php/crcp/article/download/979/667