Abstract
The DFNB79 locus harbors TPRN mutations in which have been reported in a few families with deafness. Four frameshift mutations in TPRN have been described to cause severe or severe-to-profound hearing loss in Moroccan and Pakistani families, and a single frameshift mutation was associated with progressive hearing loss in deaf individuals in a Dutch family. We identified a Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.42_52del11, in TPRN (p.G15Afs150X). In contrast to the previously reported individuals affected by the same mutation, hearing loss is likely to be progressive in this family. Thus the same mutation of TPRN can be associated with different thresholds of hearing as well as differences in the stability of the phenotype.
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Acknowledgments
We thank the Principal and Dr. Mrs. Rubina of Allama Iqbal School of Special Education, Sialkot, for their help in identification of HLRB6, and the family for their participation in this study. We also appreciate the help of Dr. Javaid Riaz (Allama Iqbal Memorial DHQ Hospital, Sialkot) for ENT examination of the affected individuals of family HLRB6. We are grateful to Dr. Thomas B. Friedman for his generous support in providing many primers for the study. DNA of one affected individual from family PKDF1129 was kindly provided by Dr. Shaheen Khan and Dr. Sheikh Riazuddin for this study. This work was supported by grant no. R01TW007608 from the Fogarty International Center and National Institute of Deafness and Other Communication Disorders, National Institutes of Health, USA.
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R. Bashir and A. Imtiaz contributed equally to this study.
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Bashir, R., Imtiaz, A., Fatima, A. et al. The c.42_52del11 Mutation in TPRN and Progressive Hearing Loss in a Family from Pakistan. Biochem Genet 51, 350–357 (2013). https://doi.org/10.1007/s10528-013-9568-y
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DOI: https://doi.org/10.1007/s10528-013-9568-y