ABCMdb

PMID: 20607857

Bareil C, Theze C, Beroud C, Hamroun D, Guittard C, Rene C, Paulet D, Georges M, Claustres M
UMD-CFTR: a database dedicated to CF and CFTR-related disorders.
Hum Mutat. 2010 Sep;31(9):1011-9., [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCC7 p.Arg117His ABCC7 p.Ile148Thr ABCC7 p.Leu206Trp ABCC7 p.Asp1152His Several sequence changes initially reported as causing disease have subsequently been reported to be neutral sequence variants (a typical illustration is the variant p.Ile148Thr) [Claustres et al., 2004; Rohlfs et al., 2004] or mutations with reduced penetrance (only some patients will develop CF or CFTR-related disorder; example: p.Arg117His) [Kiesewetter et al., 1993; Rosenstein and Cutting, 1998; Thauvin-Robinet et al., 2009] or mutations with variable expressivity (some patients develop mild rather than severe symptoms; examples include p.Leu206Trp [Desgeorges et al., 1995; Rozen et al., 1995] or p.Asp1152His [Burgel et al., 2010; Mussaffi et al., 2006]). Login to comment 81 ABCC7 p.Arg117His Mutation p.Arg117His, for example (c.350G4A according to the recommended nomenclature), whose disease phenotype varying from asymptomatic to classical CF [Munck et al., 2009; Thauvin-Robinet et al., 2009], can partially be explained by its association in cis with the polyT alleles (T[5] or T[7]), was only found in CBAVD patients in our series. Login to comment 82 ABCC7 p.Arg117His In all cases (19 alleles found in 18 patients, one male being homozygous), p.Arg117His was associated in cis with T[7] allele and (when the segregation analysis could be performed) with TG[10] repeats in 68.42% (13 alleles/19) (Fig. 3). Login to comment 111 ABCC7 p.Arg74Trp ABCC7 p.Ser1251Asn ABCC7 p.Phe508Cys Four variants can be classified into two different categories: p.Phe508Cys (complex allele, mutation), c.1210À12T[5] (mutation, UV), p.Ser1251Asn (complex allele, mutation), p.Arg74Trp (complex allele, UV). Login to comment 115 ABCC7 p.Arg117His Example of p.Arg117His mutation in CBAVD patients. Login to comment