Table 1.
Phenotypic Features of Individuals with Identified LRRC6 Mutations
| Family (Origin) | Individual | Known Consanguinity | Gender | Situs Inversus | Airway Disease | Fertility | CBF (Hz) | Allele 1 | Allele 2 |
|---|---|---|---|---|---|---|---|---|---|
| DC28 (European) |
DCP16 | yes | female | no | NRD, bronchitis, bronchiectasis, lobectomy, rhinosinusitis, otitis | hypofertility | 0 | c.598_599delAA (p.Lys200Glufs∗3) | c.598_599delAA (p.Lys200Glufs∗3) |
| DCP17 | yes | male | yes | bronchitis, rhinosinusitis | asthenospermia | 0 | c.598_599delAA (p.Lys200Glufs∗3) | c.598_599delAA (p.Lys200Glufs∗3) | |
| DC21 (European) |
DCP18a | no | male | no | bronchitis, bronchiectasis, rhinosinusitis, nasal polyposis | asthenospermia | 0 | c.574C>T (p.Gln192∗) | c.576dupA (p.Glu193Argfs∗4) |
| DC108 (European) |
DCP152 | no | male | no | bronchitis, bronchiectasis, rhinosinusitis, otitis | NR | 0 | c.598_599delAA (p.Lys200Glufs∗3) | c.598_599delAA (p.Lys200Glufs∗3) |
| DC1039 (European) |
DCP193 | no | male | no | bronchorrhea | asthenospermia | 0 | c.220G>C (p.Ala74Pro) | c.220G>C (p.Ala74Pro) |
| DC1026 (European) |
DCP339 | no | male | yes | bronchitis, bronchiectasis, rhinosinusitis, otitis | asthenospermia | ND | c.598_599delAA (p.Lys200Glufs∗3) | c.436G>C (p.Asp146His) |
The following abbreviations are used: CBF, ciliary beat frequency; NRD, neonatal respiratory distress; NR, not relevant; and ND, not determined.
a
Very low nasal nitric-oxide levels (13 nl/min) were documented in this individual.