ABCMdb

PMID: 9475107

Liang MH, Wong LJ, Klein D, Shapiro B, Bowman CM, Hsu E, Wong LJ
Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.
J Med Genet. 1998 Jan;35(1):84-5., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCC7 p.Arg1066Leu The substitution of the hydrophobic amino acid leucine for the positively charged arginine, R1066L, results in a pancreatic insufficient phenotype.' Login to comment 22 ABCC7 p.Arg1066His The substitution of another positively charged histidine for arginine, R1066H, however, was found in both pancreatic sufficient and insufficient patients.' Login to comment 24 ABCC7 p.Arg1066Cys Thus, our patient with homozygous R1066C presents the opportunity to investigate the phenotype of this mutation. Login to comment 50 ABCC7 p.Arg1066Cys ABCC7 p.Arg1066Cys Since the R1066C is a rare mutation and the patient is the product of a consanguineous mating, we conclude that the patient is homozygous for the R1066C mutation. Login to comment 51 ABCC7 p.Arg1066Cys The R1066C missense mutation is relatively uncommon in white populations, occurring with a frequency of 0.3% in the German population.7 It is more common in people ofSpanish descent with a frequency of 0.72%,' and has an unusually high frequency of 4.8% in CF patients from Portugal.9 Reviewing the point mutations that were analysed by several well known commercial laboratories in the United States, we found that the R1066 mutation hot spot was not included in any of the mutation panels screened. Login to comment 53 ABCC7 p.Arg1066Cys All reported R1066C cases were heterozygous, and most of the clinical courses were not described except one compound heterozygous carrier, with a rare DNA polymorphism, whose major clinical manifestation was disseminated bronchiectasis. Login to comment 55 ABCC7 p.Arg1066Cys Our patient, homozygous for mutation R1066C, had a classical presentation of CF. Login to comment 64 ABCC7 p.Arg1066Cys Functional studies of the in vitro expressed R1066C mutant CFTR protein will be necessary in order to understand further the potential effect of this mutation on the biochemical and clinical outcome. Login to comment 66 ABCC7 p.Arg1066His MIN-HUI LIANG LEE-JUN C WONG Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children 's Hospital Los Angeles, 4650 Sunset Boulevard, Mail Stop 103, Los Angeles, CA 90027, USA DEBORAH KLEIN BERTRAND SHAPIRO Department ofMedicine, USC University Hospital, Ambulatory Health Centre, 1st Floor, 1355 San Pablo Street, Los Angeles, CA 90033, USA C MICHAEL BOWMAN EVELYN HSU LEE-JUN C WONG Institute for Molecular and Human Genetics, Georgetown University Medical Center, 3800 Reservoir Road NW, Rm M4000, Washington DC 20007, USA 1 Cremonesi L, Cainarca S, Rossi A, Padoan R, Ferrari M. Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. Login to comment 67 ABCC7 p.Arg1066His Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. Login to comment 144 ABCC7 p.Arg1066Cys group.bmj.comon October 25, 2012 - Published byjmg.bmj.comDownloaded from doi: 10.1136/jmg.35.1.84-a 1998 35: 84-85J Med Genet M H Liang, L J Wong, D Klein, et al. homozygous for the R1066C mutation. Login to comment 145 ABCC7 p.Arg1066Cys group.bmj.com on December 5, 2015 - Published by http://jmg.bmj.com/ Downloaded from homozygous for the R1066C mutation. Login to comment