Hereditary deafness is a genetically heterogeneous phenotype and, to date, more than 100 genomic loci have been implicated in DFNB. DFNB21 is known to be manifested due to causal mutations in the gene coding for the alpha-tectorin protein.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
11q23.3
Hereditary deafness is a genetically heterogeneous phenotype and, to date, more than 100 genomic loci have been implicated in DFNB. DFNB21 is known to be manifested due to causal mutations in the gene coding for the alpha-tectorin protein.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 603629.1.1 | Lebanon | Female | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment  | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | |
| 603629.1.2 | Lebanon | Male | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Brother of 603629.1.... |
| 603629.1.3 | Lebanon | Female | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Sister of 603629.1.1 |
| 603629.1.4 | Lebanon | Female | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | First cousin of 6036... |
| 603629.1.5 | Lebanon | Male | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Brother of 603629.1.... |
| 603629.1.6 | Lebanon | Male | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Brother of 603629.1.... |
| 603629.1.7 | Lebanon | Female | Yes | No | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Sister of 603629.1.4 |
| 603629.1.8 | Lebanon | Male | Yes | Yes | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Nephew of 603629.1.1 |
| 603629.1.9 | Lebanon | Male | Yes | Yes | Severe sensorineural hearing impairment Severe sensorineural hearing impairment | NM_005422.2:c.2941+1G>A | Homozygous | Autosomal, Recessive | Mustapha et al. 1999 | Nephew of 603629.1.1 |
| 603629.2.1 | Palestine | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | |
| 603629.2.2 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | Sibling of 603629.2.... |
| 603629.2.3 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | First cousin once re... |
| 603629.2.4 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | Sibling of 603629.2.... |
| 603629.3.1 | Palestine | Male | No | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | |
| 603629.3.2 | Palestine | Male | No | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | Sibling of 603629.3.... |
| 603629.3.3 | Palestine | Female | No | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_005422.2:c.4857C>A | Homozygous | Autosomal, Recessive | Shahin et al. 2010 | Sibling of 603629.3.... |
| 603629.4 | Lebanon | Unknown | Yes | Hearing impairment Hearing impairment | NM_005422.4:c.569C>T | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 |