PMID: 23664929

Zhan ZX, Liao XX, Du J, Luo YY, Hu ZT, Wang JL, Yan XX, Zhang JG, Dai MZ, Zhang P, Xia K, Tang BS, Shen L
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.
Eur J Med Genet. 2013 Jul;56(7):375-8. doi: 10.1016/j.ejmg.2013.04.008. Epub 2013 May 9., [PubMed]
Sentences
No. Mutations Sentence Comment
3 ABCD1 p.Arg554His
X
ABCD1 p.Arg554His 23664929:3:34
status: NEW
view ABCD1 p.Arg554His details
 A missense mutation (c.1661G>A, p.R554H) was identified in ABCD1. Login to comment 77 ABCD1 p.Arg554His
X
ABCD1 p.Arg554His 23664929:77:298
status: NEW
view ABCD1 p.Arg554His details
 Open symbols &#bc; unaffected; filled symbols &#bc; affected; symbols with a diagonal line &#bc; deceased subjects; symbols with a point &#bc; carrier; squares &#bc; male; circles &#bc; female; arrow &#bc; the proband; minus &#bc; the wild-type allele; plus &#bc; the mutation allele, c.1661G>A, p.R554H in exon 7 of ABCD1. Login to comment 100 ABCD1 p.Arg554His
X
ABCD1 p.Arg554His 23664929:100:89
status: NEW
view ABCD1 p.Arg554His details
 Finally, ABCD1, the causative gene for X-ALD, which contained a mutation of c.1661G>A, p.R554H in exon 7, was suggested to be the causative gene of the family. Login to comment 115 ABCD1 p.Arg554His
X
ABCD1 p.Arg554His 23664929:115:54
status: NEW
view ABCD1 p.Arg554His details
 Subsequently, WES uncovered the mutation c.1661G>A, p.R554H in ABCD1 in both sibs. Login to comment