Table 2 Summary of genotype and clinical characteristics of three unrelated Iranian families
Family | Pedigree | Variation | Age at test | Age of onset | Age at cochlear implant | Type of HL | CAP-II | SIR | Gender | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Chromosome | Nucleotide | Protein | Type | Status | |||||||||
Family 1 | IV.I | Chr3:46,694,176–46,703,459 | g.46694176-46703459del | – | Deletion | Hom | 17y | Prelingual | 5y | Profound | 7/9 | 4/5 | Female |
IV.4 | Chr3:46,694,176–46,703,459 | g.46694176-46703459del | – | Deletion | Hom | 8y | Prelingual | 5y | Profound | 6/9 | 3/5 | Male | |
IV.2 | Chr3:46,694,176–46,703,459 | g.46694176-46703459del | – | Deletion | Het | 12y | – | – | Normal | – | – | Female | |
IV.3 | Chr3:46,694,176–46,703,459 | g.46694176-46703459del | – | Deletion | Het | 11y | – | – | Normal | – | – | Female | |
III.1 | Chr3:46,694,176–46,703,459 | g.46694176-46703459del | – | Deletion | Het | 40y | – | – | Normal | – | – | Male | |
III.2 | Chr3:46,694,176–46,703,459 | g.46694176-46703459del | – | Deletion | Het | 36y | – | – | Normal | – | – | Female | |
Family 2 | IV.I | Chr3: 46,705,816–46,705,817 | c.122_125dup | p.Pro43AlafsTer73 | Frameshift | Hom | 6y | Prelingual | 10 m | Severe to profound | 7/9 | 5/5 | Female |
III.1 | Chr3: 46,705,816–46,705,817 | c.122_125dup | p.Pro43AlafsTer73 | Frameshift | Het | 37y | – | – | Normal | – | – | Male | |
III.2 | Chr3: 46,705,816–46,705,817 | c.122_125dup | p.Pro43AlafsTer73 | Frameshift | Het | 30y | – | – | Normal | – | – | Female | |
Family 3 | VI.1 | Chr3: 46,709,164 | c.250 C > T | p.(Arg84Trp) | Missense | Hom | 17y | Prelingual | 10y | Profound | 6/9 | 4/5 | Female |
VI.2 | Chr3: 46,709,164 | c.250 C > T | p.(Arg84Trp) | Missense | Hom | 7y | Prelingual | 10 m | Profound | 7/9 | 5/5 | Male | |
V.1 | Chr3: 46,709,164 | c.250 C > T | p.(Arg84Trp) | Missense | Het | 38y | – | – | Normal | – | – | Female | |
IV.1 | Chr3: 46,709,164 | c.250 C > T | p.(Arg84Trp) | Missense | Het | 36y | – | – | Normal | – | – | Male | |