ABCMdb

PMID: 24788897

Durmaz A, Atik T, Onay H, Canda EE, Ucar SK, Bademkiran F, Coker M, Cogulu O, Ozkinay F
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCD1 p.Pro543Leu The mutation analysis of the female patient revealed IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state. Login to comment 5 ABCD1 p.Arg104Pro The male patient was found to be hemizygous for a novel mutation, p. R104P. Login to comment 48 ABCD1 p.Arg104Pro Mutational analysis revealed a novel hemizygous p. R104P mutation (Figs. Login to comment 58 ABCD1 p.Pro543Leu Her molecular genetic analysis showed the IVS5-6delC (c.1489-6delC) and p. P543L variations in compound heterozygous state (Fig. 1b). Login to comment 62 ABCD1 p.Pro543Leu ABCD1 p.Arg104Pro In our study p. R104P, IVS5-6delC (c.1489-6delC) and p. P543L mutations were detected. Login to comment 63 ABCD1 p.Arg104Pro In case 1 mutational analysis revealed a novel hemizygous p. R104P mutation. Login to comment 64 ABCD1 p.Arg104Pro SIFT predicted that the substitutions at position R104 damage the protein function with a score of Fig. 2 Cranial MR of the case 1 showing homogenous hyperintens regions in the bilateral occipital regions and splenium of corpus collosum Fig. 3 The prediction of the mutation effect by PolyPhen and SIFT software programs showing a damaging effect of the p. R104P mutation (SIFT score: 0 with a prediction: damaging and PolyPhen score: 1.0 with a prediction: probably damaging) Metab Brain Dis (2014) 29:809-812 811 0.00, suggesting that this mutation is damaging (Ng and Henikoff 2006). Login to comment 65 ABCD1 p.Arg104Pro PolyPhen predicted that p. R104P is probably damaging with a score of 1.00 (Adzhubei et al. 2010) (Fig. 3). Login to comment 67 ABCD1 p.Arg104His ABCD1 p.Arg104Lys p. R104H and p. R104K mutations occuring at the same amino acid residue had been previously reported (Kemp et al. 2001). Login to comment 68 ABCD1 p.Arg104His An absent enzyme activity was first reported in an Israeli patient having p. R104H mutation (Neumann et al. 2001). Login to comment 69 ABCD1 p.Arg104Pro Regarding previously reported cases with mutations in the same codon, the novel p. R104P mutation is considered as being disease causing. Login to comment 72 ABCD1 p.Gly510Ser In another study 2 affected females having CALD and AMN were shown to have heterozygous p. Ser358fsX42 and p. Gly510Ser mutations, respectively (Pereira Fdos et al. 2012). Login to comment 78 ABCD1 p.Pro543Leu The p. P543L mutation detected in our case was previously shown to be associated with an absent enzyme activity (Lachtermacher et al. 2000). Login to comment 81 ABCD1 p.Pro543Leu The IVS5-6delC (c.1489-6delC) has been considered to modify the deleterious effect of p. P543L mutation. Login to comment