ABCMdb

PMID: 15643618

Montagna G, Di Biase A, Cappa M, Melone MA, Piantadosi C, Colabianchi D, Patrono C, Attori L, Cannelli N, Cotrufo R, Salvati S, Santorelli FM
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
Hum Mutat. 2005 Feb;25(2):222., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCD1 p.Gly343Ser ABCD1 p.Ser514Arg ABCD1 p.Cys88Trp ABCD1 p.Leu503Pro We identified eleven hemizygous base changes in ABCD1, including seven new mutations (c.145_146ins4, c.264C>G, c.919C>T, c.994C>T, c.1027G>A, c.1508T>C, and c.1540A>C, resulting in the p.Pro193fs, p.Cys88Trp, p.Gln307X, p.Gln332X, p.Gly343Ser, p.Leu503Pro, and p.Ser514Arg changes, respectively). Login to comment 66 ABCD1 p.Cys88Trp The novel c.264C>G (p.Cys88Trp) mutation was identified in the proband of family It-1-ME. Login to comment 72 ABCD1 p.Cys88Trp Lanes 3, 4, and 6 indicate patients harbouring the p.Cys88Trp, p.Gln332X , and the p.Pro49fs mutations, respectively. Login to comment 75 ABCD1 p.Gly343Ser The new missense c.1027G>A (p.Gly343Ser) mutation was found in exon 2 in the proband of family It-5-FR but not in 200 control chromosomes. Login to comment 77 ABCD1 p.Gly343Asp Interestingly, another substitution at the same residue (p.Gly343Asp) has already been associated with X-ALD in one family (Kemp et al., 2001). Login to comment 78 ABCD1 p.Ser514His The c.1540A>C (p.Ser514His) mutation was identified in exon 6 of the ABCD1 gene in the proband of families It-6-DI and It-7-FA. Login to comment 82 ABCD1 p.Leu503Pro The missense c.1508T>C (p.Leu503Pro) mutation was found in exon 6 in the proband in family It-3-BE. Login to comment 87 ABCD1 p.Arg152Cys ABCD1 p.Tyr181Cys Additional mutations identified in this study (c. 454C>T, c.542A>G, c.1415_1416del2, and c.1661G>A, resulting respectively in the variants p.Arg152Cys, p.Tyr181Cys, p.Glu471fs, and p.Arg554His), each found in one family, have already been listed in the X-ALD mutation database (http://www.x-ald.nl). Login to comment 95 ABCD1 p.Arg152Cys ABCD1 p.Tyr181Cys ABCD1 p.Arg554His ABCD1 p.Gly343Ser ABCD1 p.Ser514Arg ABCD1 p.Cys88Trp ABCD1 p.Leu503Pro Summary of Mutations in ABCD1 (RefSeq: NM_000033.2) Identified in this Study ABCD1 gene cDNA level Protein level Exon 1 c.145_146ins4 p.Pro49fs Exon 1 c.264C>G p.Cys88Trp Exon 1 c. 454C>T p.Arg152Cys Exon 1 c.542A>G p.Tyr181Cys Exon 2 c.919C>T p.Gln307X Exon 2 c.994C>T p.Gln332X Exon 2 c.1027G>A p.Gly343Ser Exon 5 c.1415_1416del2 p.Glu471fs Exon 6 c.1508T>C p.Leu503Pro Exon 6 c.1540A>C p.Ser514Arg Exon 7 c.1661G>A p.Arg554His Novel variants are in bold. Login to comment 101 ABCD1 p.Ser514Arg However, the p.Ser514Arg mutation was found in two families who denied formal consanguinity. Login to comment