A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family

Caridi, Gianluca; Lugani, Francesca; Rigat, Brigitte; Abeele, Patrick Van Den; Layet, Valérie; Gavard, M.S.; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo

doi:10.1016/j.ejmg.2018.07.001

Cited by 3 publications

(7 citation statements)

References 19 publications

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“…The subsequent frame-shift causes a premature stop codon, giving rise to an aberrant truncated putative protein product, p.Val367fs ∗ 12, consisting of 353 amino acids. The same variant is present in heterozygous condition in several other members of the family (Caridi et al, 2019).…”

Section: Molecular Geneticsmentioning

confidence: 90%

“…Many methods are commonly used in clinical chemistry laboratories to establish the ALB concentration: conventional or capillary serum protein electrophoresis, standard clinical chemistry systems using photometric dye-binding methods, and immunochemistry techniques (Caridi et al, 2018a). Of these, dye-binding assays overestimate ALB levels at low concentrations (Lyon et al, 1998), to the point where concentrations around or greater than 15 g/L have been recently reported in analbuminaemic subjects (Caridi et al, 2018a,b, 2019). This, together with the absence of unambiguous clinical and biochemical signs in the analbuminaemic individuals (see below), may represent difficulties in the early clinical diagnosis of CAA.…”

Section: Diagnosis Of and Differential Diagnosis To Caamentioning

confidence: 99%

“…However, pregnancies are not always successful. Thus, a 37-year-old analbuminemic woman was reported to have serious problems during her first pregnancy (Caridi et al, 2019). She had a pronounced weight gain during the first 2 months of pregnancy (from 96 to 132 kg), and clinical examination showed the presence of multiple oedemas and lipodystrophy.…”

Section: Consequences Of Caamentioning

confidence: 99%

“…She had a pronounced weight gain during the first 2 months of pregnancy (from 96 to 132 kg), and clinical examination showed the presence of multiple oedemas and lipodystrophy. The pregnancy had to be stopped by an emergency caesarean section because of uterine bleeding and hemorrhagic shock (Caridi et al, 2019).…”

Section: Consequences Of Caamentioning

confidence: 99%

“…Only the variants resulting in familial dysalbuminemic hyperthyroxinemia and hypertriiodothyroninemia are of clinical relevance, because affected individuals are at risk of inappropriate treatment or may have adverse drug effects (Kragh-Hansen et al, 2017). In 27 other examples, the pathogenic variants (mainly affecting splicing, nonsense, and deletions) cause a premature stop in the ALB synthesis and lead to the condition known as CAA (The Albumin Website, 2018; Caridi et al, 2019). In this review, we discuss the diagnosis, differential diagnoses, frequency and clinical impact of CAA.…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

et al. 2019

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Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly decreased concentration, or complete absence, of serum albumin. The trait is usually detected by serum protein electrophoresis and immunochemistry techniques. However, due to the existence of other conditions in which the albumin concentrations are very low or null, analysis of the albumin ( ALB ) gene is necessary for the molecular diagnosis. CAA can lead to serious consequences in the prenatal period, because it can cause miscarriages and preterm birth, which often is due to oligohydramnios and placental abnormalities. Neonatally and in early childhood the trait is a risk factor that can lead to death, mainly from fluid retention and infections in the lower respiratory tract. By contrast, CAA is better tolerated in adulthood. Clinically, in addition to the low level of albumin, the patients almost always have hyperlipidemia, but they usually also have mild oedema, reduced blood pressure and fatigue. The fairly mild symptoms in adulthood are due to compensatory increment of other plasma proteins. The condition is rare; clinically, only about 90 cases have been detected worldwide. Among these, 53 have been studied by sequence analysis of the ALB gene, allowing the identification of 27 different loss of function (LoF) pathogenic variants. These include a variant in the start codon, frame-shift/insertions, frame-shift/deletions, nonsense variants, and variants affecting splicing. Most are unique, peculiar for each affected family, but one, a frame-shift deletion called Kayseri, has been found to cause about one third of the known cases allowing to presume a founder effect. This review provides an overview of the literature about CAA, about supportive and additional physiological and pharmacological information obtained from albumin-deficient mouse and rat models and a complete and up-to-date dataset of the pathogenic variants identified in the ALB gene.

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Section: Molecular Geneticsmentioning

confidence: 90%

Section: Diagnosis Of and Differential Diagnosis To Caamentioning

confidence: 99%

Section: Consequences Of Caamentioning

confidence: 99%

Section: Consequences Of Caamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

et al. 2019

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Evolution of the albumin protein family in reptiles

Broussard

Rodriguez

Austin

2022

Molecular Phylogenetics and Evolution

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Alterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia—A Systematic Review

2023

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Albumin is a highly abundant plasma protein with multiple functions, including the balance of fluid between body compartments and fatty acid trafficking. Humans with congenital analbuminemia (CAA) do not express albumin due to homozygosity for albumin gene mutation. Lessons about physiological control could be learned from CAA. Remarkably, these patients exhibit an apparently normal lifespan, without substantial impairments in physical functionality. There was speculation that tolerance to albumin deficiency would be characterized by significant upregulation of other plasma proteins to compensate for analbuminemia. It is unknown but possible that changes in plasma protein expression observed in CAA are required for the well-documented survival and general wellness. A systematic review of published case reports was performed to assess plasma protein pattern remodeling in CAA patients who were free of other illnesses that would confound interpretation. From a literature search in Pubmed, Scopus, and Purdue Libraries (updated October 2022), concentration of individual plasma proteins and protein classes were assessed. Total plasma protein concentration was below the reference range in the vast majority of CAA patients in the analysis, as upregulation of other proteins was not sufficient to prevent the decline of total plasma protein when albumin was absent. Nonetheless, an impressive level of evidence in the literature indicated upregulated plasma levels of multiple globulin classes and various specific proteins which may have metabolic functions in common with albumin. The potential role of this altered plasma protein expression pattern in CAA is discussed, and the findings may have implications for other populations with hypoalbuminemia.

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A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family

Cited by 3 publications

References 19 publications

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

Evolution of the albumin protein family in reptiles

Alterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia—A Systematic Review

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