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, chronic obstructive pulmonary disease, many respiratory infections, asthma, bronchiolitis, cor pulmonale, pancreatic insufficiency, edema, neonatal jaundice, vitamin (A,D,E,K) deficient, pancreatitis, absent vas deferens, infertility growth deficiency, steatorrhoea, failure to thrive, bowel obstruction, digital clubbing |
| 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: | p.M1101K |
| 2 Amish | |
| Gene: | CFTR |
| Base Change: | c.3773dupT |
| Amino Acid Change: | p.Leu1258Phefs*7 |
| 3 Amish, Old Order Mennonite, Old Colony Mennonite, Unknown / Other Mennonite, Hutterite | |
| Gene: | CFTR |
| Base Change: | c.1521_1523delCTT |
| Amino Acid Change: | p.Phe508del |
| 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: | p.N1303K |
| Last updated: | 2022-11-03 |
| 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, 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 Mutat 4:167-177. PubMed ID: 7530552 |
| Klinger K, Horn GT, Stanislovitis P, Schwartz RH, Fujiwara TM, Morgan K. (1990) Cystic fibrosis mutations in the Hutterite Brethren. Am J Hum Genet May;46(5):983-7. PubMed ID: 2339696 |
| 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, 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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