Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant
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...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2024-12-01
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| Series: | Case Reports in Clinical Practice |
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| Online Access: | https://crcp.tums.ac.ir/index.php/crcp/article/view/979 |
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| author | Shweta Jangam Manju Kurup Preeti Arora Shruti Jawale Prashant Duraphe Sanjay Gupte |
| author_facet | Shweta Jangam Manju Kurup Preeti Arora Shruti Jawale Prashant Duraphe Sanjay Gupte |
| author_sort | Shweta Jangam |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-4bf70af3bd05445dba59462650d66f35 |
| institution | Kabale University |
| issn | 2538-2683 2538-2691 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Case Reports in Clinical Practice |
| spelling | doaj-art-4bf70af3bd05445dba59462650d66f352025-01-06T08:36:51ZengTehran University of Medical SciencesCase Reports in Clinical Practice2538-26832538-26912024-12-019310.18502/crcp.v9i3.17236Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene VariantShweta Jangam0Manju Kurup1Preeti Arora2Shruti Jawale3Prashant Duraphe4Sanjay Gupte5Biomedical Genetics, Greenarray Genomic Research and Solutions, a Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India.Greenarray Genomic Research and Solutions, a Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India.Microbiology, Research Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India.Research Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India.Shikhana Prasaraka Mandali’s Late Prin. B. V. Bhide Foundation, Pune, Maharashtra, India.Research Division of Accurate Diagnostics Pvt. Ltd., Kothrud, Pune, Maharashtra, India. AND Gupte Hospital, Postgraduate Institution and Centre of Research in Reproduction, Pune, India. 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/979TRIOBP geneCongenital hearing lossWhole genome sequencing |
| spellingShingle | Shweta Jangam Manju Kurup Preeti Arora Shruti Jawale Prashant Duraphe Sanjay Gupte Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant Case Reports in Clinical Practice TRIOBP gene Congenital hearing loss Whole genome sequencing |
| title | Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant |
| title_full | Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant |
| title_fullStr | Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant |
| title_full_unstemmed | Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant |
| title_short | Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant |
| title_sort | autosomal recessive non syndromic hearing loss a case report with a novel triobp gene variant |
| topic | TRIOBP gene Congenital hearing loss Whole genome sequencing |
| url | https://crcp.tums.ac.ir/index.php/crcp/article/view/979 |
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