Autosomal recessive nonsyndromic deafness-29 (DFNB29) is caused by homozygous mutation in the CLDN14 gene on chromosome 21q22. [From OMIM]
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
21q22.13
Autosomal recessive nonsyndromic deafness-29 (DFNB29) is caused by homozygous mutation in the CLDN14 gene on chromosome 21q22. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 605608.5.3 | Syria | Male | Yes | Yes | Profound hearing impairment Profound hearing impairment  | NM_001146079.2:c.202C>T | Homozygous | Autosomal, Recessive | Tlili et al. 2024 | Brother of 605608.5.... |
| 605608.5.4 | Syria | Male | Yes | Yes | Profound hearing impairment Profound hearing impairment | NM_001146079.2:c.202C>T | Homozygous | Autosomal, Recessive | Tlili et al. 2024 | Brother of 605608.5.... |
| 614035.1 | United Arab Emirates | Unknown | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment | NM_001146079.2:c.278T>G | Homozygous | Autosomal, Recessive | Elsayed O and Al-Shamsi A. 2022 | Autosomal recessive | ||
| 614035.2.1 | Yemen | Female | Yes | Yes | Hearing impairment Hearing impairment | NM_001146079.2:c.414G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2019 | Proband from "family... |
| 614035.2.2 | Yemen | Female | Yes | Yes | Hearing impairment Hearing impairment | NM_001146079.2:c.414G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2019 | Sister of 614035.2.1... |
| 614035.3.1 | Yemen | Female | Yes | Yes | Hearing impairment Hearing impairment | NM_001146079.2:c.414G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2019 | Proband from "family... |
| 614035.4.1 | Yemen | Female | Yes | Yes | Hearing impairment Hearing impairment | NM_001146079.2:c.414G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2019 | Proband from "family... |
| 614035.4.2 | Yemen | Female | Yes | Yes | Hearing impairment Hearing impairment | NM_001146079.2:c.414G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2019 | Sister of 614035.4.1 |
| 614035.3.G | Yemen | Female | Yes | Yes | Hearing impairment Hearing impairment | NM_001146079.2:c.414G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2019 | Two affected sisters... |