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ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

Bottega, Roberta and Marconi, Caterina and Faleschini, Michela and Baj, Gabriele and Cagioni, Claudia and Pecci, Alessandro and Pippucci, Tommaso and Ramenghi, Ugo and Pardini, Simonetta and Ngu, Loretta and Baronci, Carlo and Kunishima, Shinji and Balduini, Carlo L. and Seri, Marco and Savoia, Anna and Noris, Patrizia (2015) ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood, Vol. 125 (5), p. 869-872. eISSN 1528-0020. Article.

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DOI: 10.1182/blood-2014-08-594531


Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations of ACTN1, the gene encoding for α-actinin 1, have recently been identified in a few families as being responsible for a mild form of IT (ACTN1-related thrombocytopenia; ACTN1-RT). To better characterize this disease, we screened ACTN1 in 128 probands and found 10 (8 novel) missense heterozygous variants in 11 families. Combining bioinformatics, segregation, and functional studies, we demonstrated that all but 1 amino acid substitution had deleterious effects. The clinical and laboratory findings of 31 affected individuals confirmed that ACTN1-RT is a mild macrothrombocytopenia with low risk for bleeding. Low reticulated platelet counts and only slightly increased serum thrombopoietin levels indicated that the latest phases of megakaryopoiesis were affected. Given its relatively high frequency in our cohort (4.2%), ACTN1-RT has to be taken into consideration in the differential diagnosis of ITs.

Item Type:Article
ID Code:10928
Uncontrolled Keywords:Inherited thrombocytopenias (ITs), ACTN1, α-actinin 1, thrombopoietin
Subjects:Area 06 - Scienze mediche > MED/15 Malattie del sangue
Divisions:002 Altri enti e centri di ricerca del Nord Sardegna > AOU -Azienda Ospedaliero Universitaria, Sassari
Publisher:American Society of Hematology
Deposited On:05 Jun 2015 18:11

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