A novel splicing mutation causes analbuminemia in a Portuguese boy

• Published in: Molecular genetics and metabolism Vol. 105; no. 3; pp. 479 - 483
• Main Authors: Caridi, Gianluca, Dagnino, Monica, Di Duca, Marco, Pinto, Helena, Espinheira, Maria do Céu, Guerra, António, Fernandes, Susana, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2012
• Subjects: Adolescent; Albumin gene; Analbuminemia; Base Sequence; boys; complementary DNA; consensus sequence; DNA and cDNA sequence analysis; exons; Frameshift Mutation; Genetic Predisposition to Disease; Heteroduplex analysis; heterozygosity; homozygosity; Human serum albumin; Humans; hypercholesterolemia; Hypoalbuminemia - genetics; introns; leukocytes; Male; messenger RNA; mutation; parents; Polymorphism, Single Nucleotide; Portugal; reverse transcriptase polymerase chain reaction; RNA Splicing; sequence analysis; Sequence Analysis, DNA; serum albumin; Serum Albumin - deficiency; Serum Albumin - genetics; Serum Albumin, Human; Splicing mutation; stop codon; Albumin gene; Human serum albumin; Heteroduplex analysis; ALB; HA; DNA and cDNA sequence analysis; SSCP; Splicing mutation; Analbuminemia
• ISSN: 1096-7192; 1096-7206; 1096-7206
• DOI: 10.1016/j.ymgme.2011.12.009

Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous or compound heterozygous subjects. It is an allelic heterogeneous defect, caused by a variety of mutations within the albumin gene. The analbuminemic conditio...