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Titolo:
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Autore:
Kemp, S; Pujol, A; Waterham, HR; van Geel, BM; Boehm, CD; Raymond, GV; Cutting, GR; Wanders, RJA; Hugo, HW;
Indirizzi:
Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Clin Chem, NL-1105AZ Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, NL-1105 AZAmsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZ AZAmsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Neurol, NL-1105 AZAmsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZ AZAmsterdam, Netherlands Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, CU Strasbourg,France Inst Genet & Biol Mol & Cellulaire Illkirch Graffenstaden CU Strasbourg France Johns Hopkins Univ, Inst Med Genet, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA v, Inst Med Genet, Baltimore, MD USA Kennedy Krieger Inst, Baltimore, MD USA Kennedy Krieger Inst Baltimore MDUSA dy Krieger Inst, Baltimore, MD USA
Titolo Testata:
HUMAN MUTATION
fascicolo: 6, volume: 18, anno: 2001,
pagine: 499 - 515
SICI:
1059-7794(2001)18:6<499:AMATXA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHAIN FATTY-ACIDS; PEROXISOMAL MEMBRANE-PROTEIN; GENE-TRANSFER CORRECTS; PRENATAL-DIAGNOSIS; CHILDHOOD ADRENOLEUKODYSTROPHY; SACCHAROMYCES-CEREVISIAE; ALD-GENE; MONOZYGOTIC TWINS; LORENZOS OIL; THERAPY;
Keywords:
ALD; ALDP; Addison disease; ABCD1; database; diagnosis; peroxisomal; fatty acid; transmembrane transporter; ABC; X-linked adrenoleukodystrophy; X-ALD;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
82
Recensione:
Indirizzi per estratti:
Indirizzo: Kemp, S Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Room F0-224,Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam Room F0-224,Meibergdreef 9 Amsterdam Netherlands NL-1105 AZ
Citazione:
S. Kemp et al., "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations", HUM MUTAT, 18(6), 2001, pp. 499-515

Abstract

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome. The disease is characterized by a striking and unpredictable variation in phenotypic expression. Phenotypes include the rapidly progressive childhood cerebral form (CCALD), the milder adult form, adrenomyeloneuropathy (AMN), and variants without neurologic involvement. There is no apparent correlation between genotype and phenotype. In males, unambiguous diagnosis can be achieved by demonstration of elevated levels of VLCFA in plasma. In 15 to 20% of obligate heterozygotes, however, test results are false-negative. Therefore, mutation analysis is the only reliable method for the identification of heterozygotes. Since most X-ALD kindreds have a unique mutation, a great number of mutations have been identified in the ABCD1 gene in the last seven years. In order to catalog and facilitate the analysis of these mutations, we have established a mutation database for X-ALD (http://www.x-ald.nl). In this review we report a detailed analysis of all 406 X-ALD mutations currently included in the database. Also, we present 47 novel mutations. In addition, we review the various X-ALD phenotypes, the different diagnostic tools, and the need for extended family screening for the identification of new patients. Hum Mutat 18:499-515, 2001. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 00:48:19