ABCMdb

PMID: 17127107

Van Hoorenbeeck K, Storm K, van den Ende J, Biervliet M, Desager KN
N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
J Cyst Fibros. 2007 May;6(3):220-2. Epub 2006 Nov 28., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis Kim Van Hoorenbeeck a , Katrien Storm b , Jenneke van den Ende b , Martine Biervliet b , Kristine N. Desager a,Ìe; a Department of Pediatrics, University Hospital of Antwerp, Antwerp 2650, Belgium b Department of Medical Genetics, University Hospital of Antwerp, Antwerp 2650, Belgium Received 12 September 2006; received in revised form 13 October 2006; accepted 16 October 2006 Available online 28 November 2006 Abstract The CFTR genotype N1303K/IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD). Login to comment 1 ABCC7 p.Asn1303Lys We report one family consisting of five affected patients in two generations, presenting minor symptoms of CF at different ages, segregating the CFTR mutations N1303K and IVS8-T5-TG13 in trans. Login to comment 5 ABCC7 p.Asn1303Lys Keywords: Cystic fibrosis; CFTR; N1303K; 5T; TG13; Borderline sweat chloride; CBAVD 1. Login to comment 16 ABCC7 p.Asn1303Lys We describe a patient with atypical CF and 4 family members with the same genotype, N1303K in trans with the IVS8-T5-TG13 allele (Fig. 1). Login to comment 36 ABCC7 p.Asn1303Lys This revealed one heterozygous mutation N1303K and an IVS8-Tn genotype T5/T9. Login to comment 37 ABCC7 p.Asn1303Lys Sequence analysis of the intron 8/exon 9 boundary (at the TGm locus) and segregation analysis performed in this family led us to conclude that for the propositus (and for the other affected relatives) the mutation N1303K is in trans with the IVS8-T5-TG13 allele, confirming a diagnosis of (atypical) CF. Login to comment 42 ABCC7 p.Asn1303Lys The mother (II.3) and sister (III.1) of the propositus appeared to have the same mutations, i.e. N1303K in trans with T5-TG13. Login to comment 43 ABCC7 p.Asn1303Lys The father (II.2) seemed to be heterozygous for the mutation N1303K in trans with 7T. Login to comment 76 ABCC7 p.Asn1303Lys In this family, all five members identified as being compound heterozygous for N1303K and IVS8-T5-TG13 presented with minor symptoms of CF at different ages. Login to comment 79 ABCC7 p.Asn1303Lys Additionally, the male patient presented with an azoospermia and congenital bilateral absence of the vas deferens, which is consistent with earlier observations in patients with the genotype N1303K/ 5T [2]. Login to comment