Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, chronic sinusitis, bronchiectasis, infertility, chronic bronchitis, respiratory tract infections 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Unknown / Other Mennonite  
Gene: DNAH5
Base Change: C>T, at nucleotide 4348
Amino Acid Change: Gln1450Ter
2   Amish, Unknown / Other Mennonite  
Gene: DNAH5
Base Change: c.10815delT
Amino Acid Change: p.P3606HfsX23
Last updated: 2017-03-16 

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 

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