ABCMdb

PMID: 12006459

Venarske DL, deShazo RD
Sinobronchial allergic mycosis: the SAM syndrome.
Chest. 2002 May;121(5):1670-6., [PubMed]

Sentences

No. Mutations Sentence Comment

54 ABCC7 p.Asp1270Asn www.chestjournal.org CHEST / 121 / 5 / MAY, 2002 1671 One copy of the D1270N mutation in the CFTR gene was detected. Login to comment 115 ABCC7 p.Arg117His ABCC7 p.Arg347His Miller et al11 analyzed the CFTR gene in 11 patients with ABPM and found that 1 patient carried two CF mutations (⌬F508/R347H) and 5 patients carried one mutation (⌬F508, 4 patients; R117H, 1 patient). Login to comment 118 ABCC7 p.Asp1270Asn Our patient is African-American and had one copy of the D1270N mutation with a normal sweat chloride level. Login to comment 119 ABCC7 p.Asp1270Asn ABCC7 p.Asp1270Asn The D1270N mutation, which was first described in the heterozygous state in a patient of English and Italian origin, is a missense mutation located in the second adenosine triphosphate-binding region of the CFTR gene.28 This mutation Table 2-Sinopulmonary Syndromes Immotile cilia syndrome Wegener granulomatosis Churg-Strauss syndrome SAM 1674 has been reported previously in three series of patients with congenital bilateral absence of the vas deferens,28 -30 and in a case report of an elderly man with ABPM as a presenting sign of CF.31 In a review of CF carrier frequencies in populations of African origin, two patients were identified who had symptoms suggestive of CF and were heterozygous for the D1270N mutation.32 A sweat test was not performed in one patient and was negative in the other. Login to comment