Exonic deletions as a cause of erythropoietic protoporphyria

Annals of Clinical Biochemistry

Volumn 43, Issue 3, 2006, Pages 229-232

  Wood, Lisa H ^a   Whatley, Sharon D ^a   McKenna, Kevin ^b   Badminton, Michael N ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CAROTENE; FERROCHELATASE; GENOMIC DNA; SUNSCREEN;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL TRIAL; DNA SEQUENCE; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

ALLELES; CHILD, PRESCHOOL; DNA; EXONS; GENE DOSAGE; HUMANS; MALE; PROTOPORPHYRIA, ERYTHROPOIETIC; SEQUENCE DELETION;

EID: 33646344220     PISSN: 00045632     EISSN: 00045632     Source Type: Journal    
DOI: 10.1258/000456306776865160     Document Type: Article

References (12)

1. Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994; 131: 751-66
2. Human Genome Mutation Database: www.hgmd.org
3. Gouya L, Puy H, Lamoril J, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood 1999; 93: 2105-10
4. Whatley SD, Mason NG, Khan M, et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 2004; 41: e105 (http://www.jmedgenet.com)
5. Rufenacht UB, Gouya L, Schneider-Yin X, et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 1998; 62: 1341-52
6. Deacon AC, Elder GH. ACP Best Practice No 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001; 54: 500-7
7. Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996; 33: 550-8
8. Laccone F, Junemann I, Whatley S, et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat 2004; 23: 234-44
9. Magness ST, Tugores A, Christensen SR, et al. Deletion of the ferrochelatase gene in a patient with protoporphyria. Hum Mol Genet 1994; 3: 1695-7
10. Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mutat 2003; 22: 229-44
11. Harada T, Nagayama J, Kohno K, et al. Alu-associated interstitial deletions and chromosomal re-arrangement in 2 human multidrugresistant cell lines. Int J Cancer 2000; 86: 506-11
12. Chen FP, Risheg H, Liu Y, Bloomer J. Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease. Cell Mol Biol (Noisy-le-grand) 2002; 48: 83-9