Ciliary dyskinesia, primary, 18
| Disorder | |
|---|---|
| OMIM #: | #614874 (Click to access OMIM database) |
| Disorder: | Ciliary dyskinesia, primary, 18 |
| Also known as: | CILD18 CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS |
| Clinical | |
| Phenotype: | early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance, sinusitis, ottis media, rhinitis, male infertility, situs inversus (half of patients) |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | DNAAF5 |
| Base Change: | C>T, at nucleotide 2384 |
| Amino Acid Change: | leu 795 --> pro |
| Last updated: | 2022-11-03 |
| References |
|---|
| Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. (2012) Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet Oct 5;91(4):685-93. PubMed ID: 23040496 |
| Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. (2010) Primary ciliary dyskinesia in Amish communities. J Pediatr Jun;156(6):1023-1025. PubMed ID: 20350728 |
Back