Title of article
Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant
Author/Authors
Jangam ، Shweta Biomedical Genetics, Greenarray Genomic Research and Solutions, a Division of Accurate Diagnostics Pvt. Ltd. , Kurup ، Manju Greenarray Genomic Research and Solutions, a Division of Accurate Diagnostics Pvt. Ltd. , Arora ، Preeti Microbiology, Research Division of Accurate Diagnostics Pvt. Ltd. , Jawale ، Shruti Research Division of Accurate Diagnostics Pvt. Ltd. , Duraphe ، Prashant Shikhana Prasaraka Mandali’s Late Prin. B. V. Bhide Foundation , Gupte ، Sanjay Shikhana Prasaraka Mandali’s Late Prin. B. V. Bhide Foundation
From page
108
To page
113
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.
Keywords
TRIOBP gene , Congenital hearing loss , Whole genome sequencing
Journal title
Case Reports in Clinical Practice
Journal title
Case Reports in Clinical Practice
Record number
2765267
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