A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family
Autor: | Francesca Lugani, Lorenzo Minchiotti, Patrick Van den Abeele, Valérie Layet, Marie-Sophie Gavard, Brigitte Rigat, Gianluca Caridi, Monica Galliano, Monica Campagnoli |
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Rok vydání: | 2018 |
Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Serum Albumin Human Consanguinity 030105 genetics & heredity Biology medicine.disease_cause Frameshift mutation 03 medical and health sciences Exon Molecular genetics Genetics medicine Humans Gene Genetics (clinical) Aged Mutation Congenital analbuminemia General Medicine Pedigree 030104 developmental biology Phenotype Analbuminemia Codon Terminator Female Hypoalbuminemia |
Zdroj: | European journal of medical genetics. 62(2) |
ISSN: | 1878-0849 |
Popis: | Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally thought to be a relatively benign condition in adulthood, but seems to be potentially life threatening in the pre- and peri-natal period. The subject of our study was a consanguineous family, in which we identified two analbuminemic individuals. Mutation analysis of ALB revealed that both are homozygous for a previously unreported insertion in exon 9 (c.1098dupT), causing a subsequent frame-shift with the generation of a premature stop codon, and an aberrant truncated putative protein product, p.Val367fsTer12. This variation is present in heterozygous condition in several other members of the family. The phenotype and the molecular genetics of CAA are discussed. |
Databáze: | OpenAIRE |
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