ABCMdb

PMID: 23017188

Dharajiya N, Chisholm K, Dietz L, Sue Richards C, Kharrazi M, Schrijver I
Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient.
Clin Genet. 2012 Sep 28. doi: 10.1111/cge.12012., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Phe1074Leu All rights reserved (c) 2012 John Wiley & Sons A/S CLINICAL GENETICS doi: 10.1111/cge.12012 Letter to the Editor Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient To the Editor: In the context of the comprehensive California cystic fibrosis (CF; OMIM #219700) newborn screening program, we recently identified a biparentally Hispanic male neonate to have heterozygous cystic fibrosis transmembrane conductance regulator (CFTR) mutations p.Phe508del (c.1521_1523delCTT) within legacy exon 10 (exon 11 by continuous numbering), and p.Phe1074Leu (c.3222T>A) in legacy exon number 17b (exon 20 by sequential numbering). Login to comment 9 ABCC7 p.Phe1074Leu This newborn carried one severe (p.Phe508del) and one mild (p.Phe1074Leu) CF mutation. Login to comment 12 ABCC7 p.Phe1074Leu A previous report identified the p.Phe1074Leu mutation in three Spanish brothers to be in cis with the 5T allele (3), suggesting that the p.Phe508del allele may be in cis with the 7T allele. Login to comment 33 ABCC7 p.Phe1074Leu Overall, our patient has three significant CFTR alleles: the severe p.Phe508del mutation, the disease-modifying 5T allele, and the mild p.Phe1074Leu mutation. Login to comment 36 ABCC7 p.Phe1074Leu Given the additional identification of p.Phe1074Leu, this patient is at risk for developing CF-related symptoms and will be clinically followed. Login to comment