Table 1.
Clinical Summary of Individuals with Mutations in MAFB
| Individual | Mutation | DRS | Hearing Loss |
|---|---|---|---|
| Pedigree N | |||
| II:2 | MAFB deletion | bilateral, type unknown | no |
| II:5 | MAFB deletion | yes, type unknown | no |
| II:6 | MAFB deletion | yes, type unknown | no |
| III:3 | MAFB deletion | bilateral, type 3 | no |
| III:5 | MAFB deletion | unilateral (right side), type 3 | no |
| III:6 |
MAFB deletion |
bilateral, type unknown |
no |
| Pedigree FA | |||
| II:2 | c.803delA | unilateral (right side), type 1 | unilateral (right side) |
| III:1 | c.803delA | unilateral (right side), type 1 | not reported, but not formally tested |
| III:3 | c.803delA | unilateral (right side), type 3 | unilateral (right side) |
| IV:1 |
c.803delA |
bilateral, type 3 |
bilateral |
| Pedigree 0819 | |||
| II:2 |
c.440delG |
bilateral, type 1 |
no |
| Pedigree PM | |||
| II:4 | c.644delA | bilateral, type 3 (right side) and type 1 (left side) | no |
| III:5 | c.644delA | bilateral, type 3 (right side) and type 1 (left side) | no |
| III:6 | c.644delA | bilateral, type 3 | no |
DRS (types 1 and 3) in affected individuals is bilateral in eight, right sided in four, and undetermined in two. Three of four affected members of pedigree FA have hearing loss, for which sidedness corresponds to the sidedness of their DRS. FA individual III:1 did not report hearing loss but was not formally tested; thus, hearing loss might demonstrate incomplete penetrance. All four pedigrees are of non-Hispanic white ethnicity.