ABCMdb

PMID: 12400067

Wong LJ, Liang MH, Kwon H, Bai RK, Alper O, Gropman A
A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders.
Am J Med Genet. 2002 Nov 15;113(1):59-64., 2002-11-15 [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Arg347Pro Due to the mild features of the R347P mutation in the CF transmembrane conductance regulator (CFTR) gene and the heterogeneous clinical presentation of the mtDNA disease, the patient was not definitively diagnosed until age 21. Login to comment 23 ABCC7 p.Arg347Pro She was also screened for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene and found to be heterozygous for DF508 and R347P mutations, consistent with a mild cystic fibrosis (CF) phenotype [Dean et al., 1990]. Login to comment 74 ABCC7 p.Arg347Pro Since the finding of DF508 and R347P mutations in the CFTR gene, she has been on a pancrelipase supplement. Login to comment 99 ABCC7 p.Arg347Pro Mutational analysis for CF revealed the presence of a compound heterozygous mutation of DF508 and R347P. Login to comment