Abstract
BackgroundThe autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. Among them, TRIOBP-5/− 4 are expressed in the inner ears and crucial for maintaining the structure and function of the stereocilia.MethodsThe proband is a 26-year-old Chinese female. She and her younger brother have being suffered from severe deafness since birth, whereas her parents, who are cousins, have normal communication ability. Hearing impairment of the two siblings was determined by pure tone audiometry. Whole Exome Sequencing (WES) was performed on the genomic DNA of the proband and Sanger sequencing was conducted on the DNA samples of the four family members.ResultsTests of pure tone hearing thresholds showed a severe to profound symmetric hearing loss for the proband and her younger brother. Moreover, a novel TRIOBP c.1342C > T (p.Arg448*) variant was identified by WES in the DNA sample of the proband and confirmed by Sanger sequencing in DNA of the family members.ConclusionsThe TRIOBP c.1342C > T (p.Arg448*) variant is predicted to disrupt TRIOBP-5 and TRIOBP-4, which may lead to the congenital deafness. The results will broaden the spectrum of pathogenic variants in TRIOBP gene. The characteristics of deafness in the family imply that marriage between close relatives should be avoided.
Highlights
The autosomal recessive non-syndromic deafness Deafness of autosomal recessive type 28 (DFNB28) is characterized by prelingual sensorineural hearing loss
Trio- and F-actin-binding protein (TRIOBP)-5/− 4 are mainly expressed in the inner ears and retinas, and TRIOBP-1 plays an important role in embryonic development [2,3,4]
The main procedures are described as followings: (1) DNA quality testing: After the DNA was extracted from the sample, the concentration was tested by Qubit® 3.0 Flurometer (Life Technologies, CA, USA), the purity was examined by a NanoPhotometer (IMPLEN, CA, USA) and the integrity was detected by 1% agarose gel electrophoresis; (2) Library construction: Library of small fragment preparation was conducted following the methods and procedures described in SureSelectXT Target Enrichment System (G7530–90000)
Summary
The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1. The disease is related with mutations in a gene named TRIOBP (Trio- and F-actin-Binding Protein) [1,2,3,4,5]. The TRIOBP gene in human and mouse encode three mRNA transcripts designated as TRIOBP-5, TRIOBP-4 and TRIOBP-1, respectively. TRIOBP-5, TRIOBP-4 and TRIOBP-1 code 2365, 1144 and 652 amino acids, respectively [5]. TRIOBP-5/− 4 are mainly expressed in the inner ears and retinas, and TRIOBP-1 plays an important role in embryonic development [2,3,4]
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