#611451
Table of Contents
A number sign (#) is used with this entry because autosomal recessive deafness-63 (DFNB63) is caused by homozygous mutation in the LRTOMT gene (612414) on chromosome 11q13.
Tlili et al. (2006) reported a consanguineous 6-generation Tunisian family segregating autosomal recessive congenital hearing impairment. Audiometric testing of 7 affected individuals showed bilateral profound hearing impairment involving all frequencies, whereas 11 affected individuals had profound hearing loss affecting mainly mid to high frequencies.
Kalay et al. (2007) reported a consanguineous 5-generation Turkish family (TR57) with bilateral prelingual sensorineural hearing loss and use of sign language for communication. There were no signs of vestibular dysfunction.
Khan et al. (2007) reported 4 consanguineous Pakistani families in which deafness was linked to 11q13.2-q13.3. All affected individuals displayed congenital bilateral profound hearing loss. Vestibular function appeared to be normal, and clinical evaluation suggested no skin or renal anomalies. Funduscopic examinations revealed no retinitis pigmentosa.
By genomewide linkage analysis of a Tunisian family with congenital hearing impairment, Tlili et al. (2006) identified a locus, termed DFNB63, on chromosome 11q13.3-q13.4 (maximum lod score of 5.33 at markers D11S916 and D11S4207). Haplotype analysis defined a 5.5-Mb critical region between D11S4136 and D11S4081. Screening of the SHANK2 (603290) and KCNE3 (604433) genes failed to reveal any pathogenic mutations.
By genomewide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family, Khan et al. (2007) identified the DFNB63 locus for congenital profound sensorineural hearing loss. Studies indicated linkage to 11q13.2-q13.3.
In affected members of 4 unrelated families with autosomal recessive deafness-63, Ahmed et al. (2008) identified 4 different homozygous mutations in the LRTOMT gene (612414.0001-612414.0004). The families were of Turkish, Tunisian, and Pakistani origin. Some of the families had been reported by Kalay et al. (2007), Tlili et al. (2006), and Khan et al. (2007).
Du et al. (2008) analyzed the LRTOMT gene in 192 unrelated congenitally deaf progeny of consanguineous Iranian parentage and identified homozygosity for a nonsense mutation in 1 family (612414.0005).
Ahmed, Z. M., Masmoudi, S., Kalay, E., Belyantseva, I. A., Mosrati, M. A., Collin, R. W. J., Riazuddin, S., Hmani-Aifa, M., Venselaar, H., Kawar, M. N., Tlili, A., van der Zwaag, B., and 14 others. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nature Genet. 40: 1335-1340, 2008. [PubMed: 18953341, images, related citations] [Full Text]
Du, X., Schwander, M., Moresco, E. M. Y., Viviani, P., Haller, C., Hildebrand, M. S., Pak, K., Tarantino, L., Roberts, A., Richardson, H., Koob, G., Najmabadi, H., Ryan, A. F. Smith, R. J. H., Muller, U., Beutler, B. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc. Nat. Acad. Sci. 105: 14609-14614, 2008. [PubMed: 18794526, images, related citations] [Full Text]
Kalay, E., Caylan, R., Kiroglu, A. F., Yasar, T., Collin, R. W. J., Heister, J. G. A. M., Oostrik, J., Cremers, C. W. R. J., Brunner, H. G., Karaguzel, A., Kremer, H. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. J. Molec. Med. 85: 397-404, 2007. [PubMed: 17211611, related citations] [Full Text]
Khan, S. Y., Riazuddin, S., Tariq, M., Anwar, S., Shabbir, M. I., Riazuddin, S. A., Khan, S. N., Husnain, T., Ahmed, Z. M., Friedman, T. B., Riazuddin, S. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum. Genet. 120: 789-793, 2007. [PubMed: 17066295, related citations] [Full Text]
Tlili, A., Masmoudi, S., Dhouib, H., Bouaziz, S., Rebeh, I. B., Chouchen, J., Turki, K., Benzina, Z., Charfedine, I., Drira, M., Ayadi, H. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4. Ann. Hum. Genet. 71: 271-275, 2006. [PubMed: 17166180, related citations] [Full Text]
ORPHA: 90636; DO: 0110515;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
11q13.4 | Deafness, autosomal recessive 63 | 611451 | Autosomal recessive | 3 | LRTOMT | 612414 |
A number sign (#) is used with this entry because autosomal recessive deafness-63 (DFNB63) is caused by homozygous mutation in the LRTOMT gene (612414) on chromosome 11q13.
Tlili et al. (2006) reported a consanguineous 6-generation Tunisian family segregating autosomal recessive congenital hearing impairment. Audiometric testing of 7 affected individuals showed bilateral profound hearing impairment involving all frequencies, whereas 11 affected individuals had profound hearing loss affecting mainly mid to high frequencies.
Kalay et al. (2007) reported a consanguineous 5-generation Turkish family (TR57) with bilateral prelingual sensorineural hearing loss and use of sign language for communication. There were no signs of vestibular dysfunction.
Khan et al. (2007) reported 4 consanguineous Pakistani families in which deafness was linked to 11q13.2-q13.3. All affected individuals displayed congenital bilateral profound hearing loss. Vestibular function appeared to be normal, and clinical evaluation suggested no skin or renal anomalies. Funduscopic examinations revealed no retinitis pigmentosa.
By genomewide linkage analysis of a Tunisian family with congenital hearing impairment, Tlili et al. (2006) identified a locus, termed DFNB63, on chromosome 11q13.3-q13.4 (maximum lod score of 5.33 at markers D11S916 and D11S4207). Haplotype analysis defined a 5.5-Mb critical region between D11S4136 and D11S4081. Screening of the SHANK2 (603290) and KCNE3 (604433) genes failed to reveal any pathogenic mutations.
By genomewide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family, Khan et al. (2007) identified the DFNB63 locus for congenital profound sensorineural hearing loss. Studies indicated linkage to 11q13.2-q13.3.
In affected members of 4 unrelated families with autosomal recessive deafness-63, Ahmed et al. (2008) identified 4 different homozygous mutations in the LRTOMT gene (612414.0001-612414.0004). The families were of Turkish, Tunisian, and Pakistani origin. Some of the families had been reported by Kalay et al. (2007), Tlili et al. (2006), and Khan et al. (2007).
Du et al. (2008) analyzed the LRTOMT gene in 192 unrelated congenitally deaf progeny of consanguineous Iranian parentage and identified homozygosity for a nonsense mutation in 1 family (612414.0005).
Ahmed, Z. M., Masmoudi, S., Kalay, E., Belyantseva, I. A., Mosrati, M. A., Collin, R. W. J., Riazuddin, S., Hmani-Aifa, M., Venselaar, H., Kawar, M. N., Tlili, A., van der Zwaag, B., and 14 others. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nature Genet. 40: 1335-1340, 2008. [PubMed: 18953341] [Full Text: https://doi.org/10.1038/ng.245]
Du, X., Schwander, M., Moresco, E. M. Y., Viviani, P., Haller, C., Hildebrand, M. S., Pak, K., Tarantino, L., Roberts, A., Richardson, H., Koob, G., Najmabadi, H., Ryan, A. F. Smith, R. J. H., Muller, U., Beutler, B. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc. Nat. Acad. Sci. 105: 14609-14614, 2008. [PubMed: 18794526] [Full Text: https://doi.org/10.1073/pnas.0807219105]
Kalay, E., Caylan, R., Kiroglu, A. F., Yasar, T., Collin, R. W. J., Heister, J. G. A. M., Oostrik, J., Cremers, C. W. R. J., Brunner, H. G., Karaguzel, A., Kremer, H. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. J. Molec. Med. 85: 397-404, 2007. [PubMed: 17211611] [Full Text: https://doi.org/10.1007/s00109-006-0136-3]
Khan, S. Y., Riazuddin, S., Tariq, M., Anwar, S., Shabbir, M. I., Riazuddin, S. A., Khan, S. N., Husnain, T., Ahmed, Z. M., Friedman, T. B., Riazuddin, S. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum. Genet. 120: 789-793, 2007. [PubMed: 17066295] [Full Text: https://doi.org/10.1007/s00439-006-0275-1]
Tlili, A., Masmoudi, S., Dhouib, H., Bouaziz, S., Rebeh, I. B., Chouchen, J., Turki, K., Benzina, Z., Charfedine, I., Drira, M., Ayadi, H. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4. Ann. Hum. Genet. 71: 271-275, 2006. [PubMed: 17166180] [Full Text: https://doi.org/10.1111/j.1469-1809.2006.00337.x]
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