Journal
FRONTIERS IN GENETICS
Volume 13, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.884522
Keywords
PTPRQ gene; novel compound heterozygous mutation; targeted next-generation sequencing; hearing loss; autosomal recessive inheritance
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Hearing loss is a common congenital sensory impairment, with genetic causes being a significant factor. A study found that mutations in the PTPRQ gene are associated with hereditary sensorineural hearing loss, providing insights into the relationship between genotype and hearing phenotype and aiding in clinical management and genetic counseling.
Hearing loss is among the most common congenital sensory impairments. Genetic causes account for more than 50% of the cases of congenital hearing loss. The PTPRQ gene, encoding protein tyrosine phosphatase receptor Q, plays an important role in maintaining the stereocilia structure and function of hair cells. Mutations in the PTPRQ gene have been reported to cause hereditary sensorineural hearing loss. By using next-generation sequencing and Sanger sequencing, we identified a novel compound heterozygous mutation (c.997 G > A and c.6603-3 T > G) of the PTPRQ gene in a Chinese consanguineous family. This is the first report linking these two mutations to recessive hereditary sensorineural hearing loss. These findings contribute to the understanding of the relationship between genotype and hearing phenotype of PTPRQ-related hearing loss, which may be helpful to clinical management and genetic counseling.
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