#609646
Table of Contents
A number sign (#) is used with this entry because autosomal recessive deafness-42 (DFNB42) is caused by homozygous mutation in the ILDR1 gene (609739) on chromosome 3q13.
Aslam et al. (2005) reported a consanguineous Pakistani family in which 5 members, including 4 sibs, had a prelingual nonprogressive nonsyndromic form of sensorineural deafness involving all frequencies.
Borck et al. (2011) identified 10 additional families with DFNB42, including 8 of Pakistani origin and 2 of Iranian origin. The hearing impairment in these families was prelingual, bilateral, and moderate to profound. In most affected individuals, the hearing impairment was more pronounced at higher frequencies, but some had a flat audiogram. None had vestibular abnormalities.
By genomewide analysis followed by fine mapping in a Pakistani family segregating nonsyndromic deafness, Aslam et al. (2005) identified a 21.6-cM candidate disease locus, termed DFNB42, on chromosome 3q13.31-q22.3 between markers D3S1278 and D3S2453 (maximum multipoint lod score of 3.72 at marker D3S4523). Aslam et al. (2005) noted that the DFNB42 region overlaps with that reported for autosomal dominant DFNA18 (606012).
Borck et al. (2011) identified 10 different homozygous mutations in the ILDR1 gene (see, e.g., 609739.0001-609739.0004) in affected members of 11 unrelated families with autosomal recessive nonsyndromic DFNB42. Seven of the mutations were predicted to result in a truncated protein, consistent with loss of function.
Aslam, M., Wajid, M., Chahrour, M. H., Ansar, M., Haque, S., Pham, T. L., Santos, R. P., Yan, K., Ahmad, W., Leal, S. M. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am. J. Med. Genet. 133A: 18-22, 2005. [PubMed: 15641023, images, related citations] [Full Text]
Borck, G., Ur Rehman, A., Lee, K., Pogoda, H.-M., Kakar, N., von Ameln, S., Grillet, N., Hildebrand, M. S., Ahmed, Z. M., Nurnberg, G., Ansar, M., Basit, S., and 30 others. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am. J. Hum. Genet. 88: 127-137, 2011. [PubMed: 21255762, images, related citations] [Full Text]
ORPHA: 90636; DO: 0110500;
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
3q13.33 | Deafness, autosomal recessive 42 | 609646 | Autosomal recessive | 3 | ILDR1 | 609739 |
A number sign (#) is used with this entry because autosomal recessive deafness-42 (DFNB42) is caused by homozygous mutation in the ILDR1 gene (609739) on chromosome 3q13.
Aslam et al. (2005) reported a consanguineous Pakistani family in which 5 members, including 4 sibs, had a prelingual nonprogressive nonsyndromic form of sensorineural deafness involving all frequencies.
Borck et al. (2011) identified 10 additional families with DFNB42, including 8 of Pakistani origin and 2 of Iranian origin. The hearing impairment in these families was prelingual, bilateral, and moderate to profound. In most affected individuals, the hearing impairment was more pronounced at higher frequencies, but some had a flat audiogram. None had vestibular abnormalities.
By genomewide analysis followed by fine mapping in a Pakistani family segregating nonsyndromic deafness, Aslam et al. (2005) identified a 21.6-cM candidate disease locus, termed DFNB42, on chromosome 3q13.31-q22.3 between markers D3S1278 and D3S2453 (maximum multipoint lod score of 3.72 at marker D3S4523). Aslam et al. (2005) noted that the DFNB42 region overlaps with that reported for autosomal dominant DFNA18 (606012).
Borck et al. (2011) identified 10 different homozygous mutations in the ILDR1 gene (see, e.g., 609739.0001-609739.0004) in affected members of 11 unrelated families with autosomal recessive nonsyndromic DFNB42. Seven of the mutations were predicted to result in a truncated protein, consistent with loss of function.
Aslam, M., Wajid, M., Chahrour, M. H., Ansar, M., Haque, S., Pham, T. L., Santos, R. P., Yan, K., Ahmad, W., Leal, S. M. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am. J. Med. Genet. 133A: 18-22, 2005. [PubMed: 15641023] [Full Text: https://doi.org/10.1002/ajmg.a.30508]
Borck, G., Ur Rehman, A., Lee, K., Pogoda, H.-M., Kakar, N., von Ameln, S., Grillet, N., Hildebrand, M. S., Ahmed, Z. M., Nurnberg, G., Ansar, M., Basit, S., and 30 others. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am. J. Hum. Genet. 88: 127-137, 2011. [PubMed: 21255762] [Full Text: https://doi.org/10.1016/j.ajhg.2010.12.011]
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