ABCMdb

PMID: 10517260

Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y
A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.
Clin Genet. 1999 Aug;56(2):173-5., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.His1085Arg All rights reser6ed Letter to the Editor A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis To the Editor: Cystic fibrosis (CF), the most common autosomal recessive disorder in Caucasians, has long been believed to be extremely rare in Orientals (1, 2). Login to comment 4 ABCC7 p.His1085Arg Here we describe a 15-year-old female Japanese patient who exhibited typical manifestations of CF and proved to be a homozygote for a very rare missense mutation H1085R. Login to comment 15 ABCC7 p.His1085Arg Direct sequencing of the band clearly demonstrated an alteration of the nucleotide residue at 3386 from A to G in a homozygous fashion, resulting in His to Arg change at the amino acid 1085, a missense mutation H1085R. Login to comment 17 ABCC7 p.His1085Arg Further evaluation for three polymorphic loci proved that the H1085R mutation allele was associated with a haplotype of (GATT)6 in intron 6a (8), (TG)12T7 in the TG repeat and polythymidine tract at the splice acceptor site in intron 8 (9, 10), and M470 (1540A) in exon 10 (11, 12), respectively. Login to comment 18 ABCC7 p.His1085Arg The mutation H1085R, first described by Mercier et al. Login to comment 20 ABCC7 p.His1085Arg However, no other CF patients with H1085R have been reported since then, implying that it is an extremely rare mutation (14). Login to comment 21 ABCC7 p.His1085Arg ABCC7 p.Arg1066Leu ABCC7 p.Met1101Arg Consistent with the previous report that other mutations located in exon 17b, such as R1066L and M1101R, were usually associated with pancreatic insufficiency, the case presented here and the French case had pancreatic insufficiency, suggesting that the H1085R is also a severe allele [(13), personal communication]. Login to comment 23 ABCC7 p.His1085Arg One important point is that the H1085R alleles of these 2 patients are most likely to be recurrent Letter to the Editor Fig. 1. Login to comment 24 ABCC7 p.His1085Arg Screening for the CFTR mutation H1085R in the patient and her family. Login to comment 27 ABCC7 p.His1085Arg The positions of the RsaI restriction site in the normal CFTR allele are indicated by hatched arrows, whereas the new RsaI site generated by H1085R mutation is by a solid arrow. Login to comment 36 ABCC7 p.His1085Arg However, it remains to be further elucidated whether this haplotype is restricted to the H1085R mutation or widespread in any other CFTR genotypes in CF patients in Japan. Login to comment