title: DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
abstract: Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson disease-causing mutations have been described to date. In this study we report the use of DNA and RNA analysis for molecular characterization of a gross deletion of the ATP7B gene detected in homozygosity in a Wilson disease patient. The c.51+384_1708-953del mutation spans an 8798 bp region of the ATP7B gene from exon 2 to intron 4. The results obtained suggest that the combination of DNA and RNA analyses can be used for molecular characterization of gross ATP7B deletions, thus improving genetic counselling and diagnosis of Wilson disease. Moreover these studies, help to better establish the molecular mechanisms producing Wilson disease.
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Incollu
authors.forename: Maria Barbara
authors.initials: MB
authors.lastname: Lepori
authors.forename: Antonietta
authors.initials: A
authors.lastname: Zappu
authors.forename: Valentina
authors.initials: V
authors.lastname: Dessì
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Noli
authors.forename: Eva
authors.initials: E
authors.lastname: Mameli
authors.forename: Raffaele
authors.initials: R
authors.lastname: Iorio
authors.forename: Giusy
authors.initials: G
authors.lastname: Ranucci
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Georgios
authors.initials: G
authors.lastname: Loudianos
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D027682:Cation Transport Proteins / Q000235:genetics*; D003241:Consanguinity; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000032:analysis* / Q000737:chemistry; D005091:Exons; D005808:Genes, Recessive; D005817:Genetic Counseling; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction; D012313:RNA / Q000032:analysis* / Q000737:chemistry; D017422:Sequence Analysis, DNA / Q000379:methods*; D017423:Sequence Analysis, RNA / Q000379:methods*; D017384:Sequence Deletion
chemical_list: D027682:Cation Transport Proteins; D012313:RNA; D004247:DNA; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases