ABCMdb

PMID: 23419472

Horn MA, Retterstol L, Abdelnoor M, Skjeldal OH, Tallaksen CM
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
Pediatr Neurol. 2013 Mar;48(3):212-9. doi: 10.1016/j.pediatrneurol.2012.12.007., [PubMed]

Sentences

No. Mutations Sentence Comment

145 ABCD1 p.Arg401Gln ABCD1 p.Arg464* ABCD1 p.Arg518Gln ABCD1 p.Arg591Pro ABCD1 p.Thr254Met ABCD1 p.Gly608Ser ABCD1 p.Tyr527* ABCD1 p.Gly266Ala ABCD1 p.Ser98* ABCD1 p.Gln47* ABCD1 p.Tyr33* ABCD1 gene mutations found in 21 Norwegian kindred with X-ALD* Gene Effect Amino Acid Effect Exon Reported n Kindred c.99C>A p.Y33X 1 No 1 c.139C>T p.Q47X 1 Yes 1 c.293C>A p.S98X 1 No 1 c.589_590delCT p.L197DfsX103 1 No 1 c.761C>T p.T254M 1 Yes 1 c.796G>A p.G266A 1 Yes 1 c.1202G>A p.R401Q 3 Yes 3 c.1390C>T p.R464X 4 Yes 2 c.1415_1416delAG p.Q472RfsX83 5 Yes 1 c.1497-1505del p.E499-H505delinsD 6 No 1 c.1553G>A p.R518Q 6 Yes 3 c.1581C>A p.Y527X 6 No 1 c.1585_1587delGGT p.G529del 6 Yes 1 c.1731delA p.A578PfsX58 7 No 1 c.1772G>C p.R591P 7 Yes 1 c.1822G>A p.G608S 8 Yes 1 Abbreviation: n &#bc; kindred sharing this mutation * One kindred was unavailable for genotyping. concerning the number of at-risk subjects and their health status was obtained. Login to comment