Non-syndromal sensorineural hearing impairment in humans is genetically heterogeneous showing autosomal recessive, autosomal dominant, X-linked or mitochondrial modes of transmission. DFNB9 is caused by mutations in the OTOF gene.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
2p23-p22
Non-syndromal sensorineural hearing impairment in humans is genetically heterogeneous showing autosomal recessive, autosomal dominant, X-linked or mitochondrial modes of transmission. DFNB9 is caused by mutations in the OTOF gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601071.1.1 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment  | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | |
| 601071.1.2 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.3 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.4 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.5 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Second cousin of 601... |
| 601071.1.6 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | First cousin of 6010... |
| 601071.1.7 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.8 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | First cousin of 6010... |
| 601071.1.9 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.1.10 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Chaib et al. 1996; Yasunaga et al. 1999 | Sibling of 601071.1.... |
| 601071.2.1 | Lebanon | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Yasunaga et al. 1999 | |
| 601071.2.2 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Yasunaga et al. 1999 | Sibling of 601071.2.... |
| 601071.2.3 | Lebanon | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Yasunaga et al. 1999 | Sibling of 601071.2.... |
| 601071.3.1 | Palestine | Male | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_194248.2:c.4157C>T | Homozygous | Shahin et al. 2010 | ||
| 601071.3.2 | Palestine | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_194248.2:c.4157C>T | Homozygous | Shahin et al. 2010 | Sibling of 601071.3.... | |
| 601071.3.3 | Palestine | Female | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment | NM_194248.2:c.4157C>T | Homozygous | Shahin et al. 2010 | Sibling of 601071.3.... | |
| 601071.4 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment | NM_194248.3:c.5159C>T, NM_194248.3:c.2374C>T | Compound heterozygous | Tlili et al. 2024 | ||||
| 601071.5 | Lebanon | Unknown | Yes | Hearing impairment Hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | ||
| 601071.6.1 | Yemen | Female | Yes | Yes | Sensorineural hearing impairment Sensorineural hearing impairment | NM_194248.3:c.5292-2A>C | Homozygous | Autosomal, Recessive | Asaad et al. 2023 | Proband |
| 601071.6.2 | Yemen | Female | Yes | Yes | Sensorineural hearing impairment Sensorineural hearing impairment | NM_194248.3:c.5292-2A>C | Homozygous | Autosomal, Recessive | Asaad et al. 2023 | Sister of 601071.6.1 |
| 601071.G.1 | Lebanon | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.4491T>A | Homozygous | Autosomal, Recessive | Yasunaga et al. 1999 | 8 patients from 2 un... | |
| 601071.G.3 | United Arab Emirates | Unknown | Yes | Yes | Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | NM_194248.2:c.709C>T | Homozygous | Autosomal, Recessive | Houseman et al. 2001 | Family of five affec... |