| چکیده انگلیسی مقاله |
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. |
| نویسندگان مقاله |
| 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.
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