ABCC7 p.Tyr109*
| ClinVar: |
c.327T>A
,
p.Tyr109*
?
, not provided
c.325T>A , p.Tyr109Asn ? , not provided c.326A>G , p.Tyr109Cys D , Pathogenic |
| CF databases: |
c.325T>A
,
p.Tyr109Asn
(CFTR1)
D
, The patient is a 51 yearold man from USA, first diagnosed as having cystic fibrosis at the age of 42 years. He had at that time had frequent nasal polyposis episodes and mild pulmonary symptoms. His sputum cultures have repeatedly grown Staphylococcus aereus and once Pseudomonas aaeruginosa. He is not chronically colonised with pseudomonas. He is pancreatic sufficient. His sweat chloride concentration value was 92 mEq/L. [delta]F508 was found on the other allele.
c.325T>C , p.Tyr109His (CFTR1) ? , Alonso MJ; Izquierdo I; c.326A>G , p.Tyr109Cys (CFTR1) ? , This mutation is exon 4 of the CFTR gene was found in a patient with CF: A->G at position 458 converting tyrosine 109 to cysteine. It has not been found on other CF- and non CF-chromosomes, minimizing the possibility of a polymorphism. The patinet has an unknown mutation on the other chromosome. |
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[hide] Novel CFTR mutations in black cystic fibrosis pati... Clin Genet. 2004 Apr;65(4):284-7. Feuillet-Fieux MN, Ferrec M, Gigarel N, Thuillier L, Sermet I, Steffann J, Lenoir G, Bonnefont JP
Novel CFTR mutations in black cystic fibrosis patients.
Clin Genet. 2004 Apr;65(4):284-7., [PMID:15025720]
Abstract [show]
Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17-18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.
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No. Sentence Comment
42 This mutation predicts the substitution of a stop codon for a tyrosine (Y109X), resulting in truncation of the CFTR protein by 1370 amino acids from the first transmembrane domain.
X
ABCC7 p.Tyr109* 15025720:42:72
status: NEW64 We report herein four novel mutations in three Central African patients native of Cameroon [Y109X (exon 4)] and Senegal [IVS2 þ 28A > G (intron 2), EX17a-EX18del], and in one Guianese patient [IVS22 þ 1G > A (intron 22)].
X
ABCC7 p.Tyr109* 15025720:64:92
status: NEW65 While the parents of case 1 claimed they were unrelated, finding of an identical rare mutation (Y109X) in each of them indeed argues for some degree of consanguinity hitherto unknown.
X
ABCC7 p.Tyr109* 15025720:65:96
status: NEW