A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient.
BACKGROUND
Analbuminaemia (OMIM #103600) is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous or compound heterozygous subjects. The trait is caused by a variety of mutations within the albumin gene.


METHODS
We report here the clinical and molecular characterization of a new case of congenital analbuminaemia in a 4-year-old Italian girl diagnosed on the basis of the low level of circulating albumin (= 10.0 g L(-1)). The albumin gene was screened by single-strand conformation polymorphism and heteroduplex analysis and the mutated region submitted to DNA sequencing.


RESULTS
The proband was found to be homozygous, and both parents heterozygous, for a novel deletion in exon 8 (c.920delT). The subsequent frame-shift should have given rise to a putative polypeptide chain of 304 amino acid residues, which we could not identify in the proband's serum.


CONCLUSIONS
A novel analbuminaemia causing mutation was identified and characterized at the clinical level in a child. The molecular diagnosis of the trait is based on the rapid localization of the mutation within the albumin gene by single-strand conformation polymorphism and heteroduplex analysis, followed by DNA sequencing of the mutated region.
Dagnino
M
M
Istituto Giannina Gaslini IRCCS, Genova, Italy.
Caridi
G
G
Marsciani
M
M
Bettocchi
I
I
Tassinari
D
D
Bernardi
F
F
Chiodo
F
F
Campagnoli
M
M
Galliano
M
M
Minchiotti
L
L
D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy; D018807:Polymorphism, Single-Stranded Conformational; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics*
D012709:Serum Albumin