ABCMdb

PMID: 20859837

Ke LF, Wang ZH, Huang LH, Xie HH, Lan FH
Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
Neuropediatrics. 2010 Jun;41(3):151-3. Epub 2010 Sep 21., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCD1 p.Lys217Glu ABCD1 p.Arg259Trp Fragments that covered the p.Ser108X and p.Arg259Trp mutations (pedigree 1) or p.Lys217Glu and p.Val489Val mutations (pedigree 2) of the ABCD1 gene were amplified with the primers listed in●▶ Table 1 [7]. Login to comment 37 ABCD1 p.Arg259Trp ABCD1 p.Arg259Trp 323C>A and c.775C>T) lined tandemly were detected in one allele of the ABCD1 gene, leading to the substitution of the normal serine with stop codon at codon 108 (p.Ser108X) and the substitution of the normal arginine with tryptophan at codon 259 (p.Arg259Trp). Login to comment 38 ABCD1 p.Lys217Glu In patient 2, two substitutions (c.649A>G and c.1467G>A) in one allele of the gene were identified, which resulted in the replacement of the normal lysine by glutamic at codon 217 (p.Lys217Glu) and a silent mutation at codon 489 (p.Val489Val). Login to comment 61 ABCD1 p.Arg259Trp The second missense mutation (p.Arg259Trp) has not been reported previously. Login to comment 66 ABCD1 p.Arg259Trp Fourthly, the in silico analysis of pathogenicity was performed using PolyPhen, and the prediction result revealed that p.Arg259Trp is probably damaging, suggesting that the mutation is pathogenic. Login to comment 67 ABCD1 p.Arg259Trp For the multiple mutation combination p.Ser108X and p.Arg259Trp, it is rather obvious that the nonsense mutation is disease-causing by itself, as it results in no ALDP. Login to comment 69 ABCD1 p.Lys217Glu The p.Lys217Glu mutation has been established as a disease-causing mutation by Dvorakova et al. [2] and Kemp et al. [5]. Login to comment