Pregledni rad

https://doi.org/10.11613/BM.2016.031

A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.

Gianluca Caridi ; Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy
Elif Yilmaz Gulec ; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey
Monica Campagnoli ; Department of Molecular Medicine, University of Pavia, Pavia, Italy
Francesca Lugani ; Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy
Hasan Onal ; Department of Pediatric Metabolism and Nutrition, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey
Duzgun Kilic ; Department of Biochemistry, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey
Monica Galliano ; Department of Molecular Medicine, University of Pavia, Pavia, Italy
Lorenzo Minchiotti orcid.org/0000-0002-7043-482X ; Department of Molecular Medicine, University of Pavia, Pavia, Italy

Sažetak

Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations within the albumin gene have been found to cause the trait. In our continuing study of the molecular genetics of congenital analbuminemia, we report here the clinical and biochemical findings and the mutation analysis of the gene in two Turkish infants. For the molecular analysis, we used our strategy, based on the screening of the gene by single-strand conformation polymorphism, heteroduplex analysis and direct DNA sequencing. The results showed that both patients are homozygous for the deletion of a cytosine residue in exon 5, in a stretch of four cytosines starting from nucleotide position 524 and ending at position 527 (NM_000477.5(ALB):c.527delC). The subsequent frame-shift inserts a stop codon in position 215, markedly reducing the size of the predicted protein product. The parents are both heterozygous for the same mutation, for which we propose the name Erzurum from the city of origin of the family. In conclusion, our results show that in this family congenital analbuminemia is caused by a novel frame-shift/deletion defect, confirm the inheritance of the trait, and contribute to advance our understanding of the molecular basis underlying this condition.

Ključne riječi

congenital analbuminemia; DNA mutational analysis; single base deletion; frame-shift

Hrčak ID:

161701

URI

https://hrcak.srce.hr/161701

Datum izdavanja:

15.6.2016.

Posjeta: 997 *