Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cystic fibrosis

Disorder
OMIM #: #219700  (Click to access OMIM database)
Disorder: Cystic fibrosis 
Also known as: Mucoviscidosis 
Clinical
Phenotype: nasal polyps, sinusitis, hyperglycemia, cirrhosis, portal hypertension, chronic productive cough, digital clubbing, many respiratory infections, asthma, bronchiolitis, pancreatic insufficiency, edema, neonatal jaundice, vitamin (A,D,E,K) deficient, pancreatitis, absent vas deferens, infertility, chronic obstructive lung disease, growth deficiency, steatorrhoea, failure to thrive, bowel obstruction 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish, Hutterite  
Gene: CFTR
Base Change: T>A, at nucleotide 3302
Amino Acid Change: M1101K
2   Amish  
Gene: CFTR
Base Change: c.3773dupT
Amino Acid Change: L1258Ffs*7
3   Amish, Old Order Mennonite, Old Colony Mennonite, Unknown / Other Mennonite, Hutterite  
Gene: CFTR
Base Change: c.1521_1523delCTT
Amino Acid Change: F508del
4   Amish, Unknown / Other Mennonite  
Gene: CFTR
Base Change: C>A, at nucleotide 1364
Amino Acid Change: ala 455 --> glu
5   Amish, Unknown / Other Mennonite  
Gene: CFTR
Base Change: C>G, at nucleotide 3909
Amino Acid Change: N1303K
Last updated: 2019-12-24 

References
Hergersberg M, Balakrishnan J, Bettecken T, Chevalier-Porst F, Bragger C, Burger R, Einschenk I, Liechti-Gallati S, Morris M, Schorderet D, Thonney F, Moser H, and Malik N. (1997) A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. Hum Genet 100: 220-223.
PubMed ID: 9254853 
Kazazian HH. (1994) Population Variation of Common Cystic Fibrosis Mutations. Human Mutation 4: 167-177.
PubMed ID: 7530552 
Klinger KW. (1983) Cystic fibrosis in the Ohio Amish: gene frequency and founder effect. Human Genet. 65:94-98.
PubMed ID: 6654341 
Miller SR, Schwarts RH. (1992) Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis. Am. J. Public Health 82:236-42.
PubMed ID: 1739154 
Pasterkamp H, Menzies KJ, Bayomi DJ. (2019) Cystic fibrosis in Canadian Hutterites. Pediatr Pulmonol Nov 29. doi: 10.1002/ppul.24590.
PubMed ID: 31782915 
Zielenski J, Fujiwara TM, Markiewicz D, Paradis A, Anacleto A, Richards B, Schwartz R, Klinger K, Tsui LC, and Morgan K. (1993) Identification of the M1101K Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene and Complete Detection of Cystic Fibrosis Mutations in the Hutterite Population. Am. J. Hum. Genet. 52: 609-615.
PubMed ID: 7680525 

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