Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant

Shweta  Jangam; Manju  Kurup; Preeti  Arora; Shruti  Jawale; Prashant  Duraphe; Sanjay  Gupte

doi:10.18502/crcp.v9i3.17236

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.

DOI: https://doi.org/10.18502/crcp.v9i3.17236

Keywords: TRIOBP gene; Congenital hearing loss; Whole genome sequencing

Abstract

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.