Primary Ciliary Dyskinesia, Type 3
| Disorder | |
|---|---|
| OMIM #: | #608644 (Click to access OMIM database) |
| Disorder: | Primary Ciliary Dyskinesia, Type 3 |
| Also known as: | CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS, KARTAGENER SYNDROME |
| Clinical | |
| Phenotype: | situs inversus, heterotaxy, immotile cilia, chronic sinusitis, bronchiectasis, infertility, chronic bronchitis, respiratory distress, respiratory infections |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish, Unknown / Other Mennonite | |
| Gene: | DNAH5 |
| Base Change: | C>T, at nucleotide 4348 |
| Amino Acid Change: | p.Gln1450* |
| 2 Amish | |
| Gene: | DNAH5 |
| Base Change: | c.10815delT |
| Amino Acid Change: | p.Pro3606Hisfs*23 |
| Last updated: | 2022-11-14 |
| References |
|---|
| Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet Apr;46(4):281-6. PubMed ID: 19357118 |
| Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA. (2013) Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities. J Pediatr Aug;163(2):383-7. PubMed ID: 23477994 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
Back