title: Detection of a novel splicing mutation causing analbuminemia in a Libyan family.
abstract: OBJECTIVE
  Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans.
  
  
  METHODS
  The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with altered DHPLC profiles were sequenced.
  
  
  RESULTS
  DNA sequencing revealed the presence of a novol homozygous G➔T transition in the first base of intron 11 (c.1428+1G>T), in both children. This mutation destroys the GT consensus donor sequence found at the 5' end of most intervening sequences and would cause the defective pre-mRNA splicing.
  
  
  CONCLUSIONS
  Molecular diagnosis based on DHPLC and DNA sequencing represents a powerful tool to study molecular defects causing analbuminemia.
authors.affiliation: Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia. amina.bibi@rns.tn
authors.forename: Amina
authors.initials: A
authors.lastname: Bibi
authors.forename: Latifa
authors.initials: L
authors.lastname: Jouini
authors.forename: Chaima Abdelhafidh
authors.initials: CA
authors.lastname: Sahli
authors.forename: Sondess
authors.initials: S
authors.lastname: Hadj Fredj
authors.forename: Kamel
authors.initials: K
authors.lastname: Abidi
authors.forename: Lamia
authors.initials: L
authors.lastname: Gharsallah
authors.forename: Sondess
authors.initials: S
authors.lastname: Mathlouthi
authors.forename: Faida
authors.initials: F
authors.lastname: Ouali
authors.forename: Hajer
authors.initials: H
authors.lastname: Siala
authors.forename: Raja
authors.initials: R
authors.lastname: Belhaj
authors.forename: Azza
authors.initials: A
authors.lastname: Sammoud
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D034141:Hypoalbuminemia / Q000235:genetics*; D007223:Infant; D008002:Libya; D008297:Male; D008969:Molecular Sequence Data; D022821:RNA Splice Sites; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D012709:Serum Albumin