AI Article Synopsis
- ACTN1-related thrombocytopenia is caused by genetic mutations in the ACTN1 gene, leading to large platelets and mild bleeding issues.
- Two sisters with a specific homozygous variant showed moderate thrombocytopenia and significantly larger platelets than their heterozygous relatives, suggesting a stronger genetic impact on platelet size.
- The study also proposes a link between certain ACTN1 variants and heart valve defects, indicating that these genetic changes may affect both blood cell characteristics and cardiac health.
Article Abstract
ACTN1-related thrombocytopenia is a rare disorder caused by heterozygous variants in the ACTN1 gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with ACTN1-RT caused by a homozygous variant in ACTN1 (c.982G>A) with mild heart valve defects unexplained by any other genetic variants investigated by WES. Within the reported family, the homozygous sisters have moderate thrombocytopenia and marked platelet macrocytosis with giant platelets, revealing a more severe haematological phenotype compared to their heterozygous relatives and highlighting a significant effect of allelic burden on platelet size. Moreover, we hypothesize that some ACTN1 variants, especially when present in the homozygous state, may also contribute to the cardiac abnormalities.
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ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.
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Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Article Synopsis
- ACTN1-related thrombocytopenia is caused by genetic mutations in the ACTN1 gene, leading to large platelets and mild bleeding issues.
- Two sisters with a specific homozygous variant showed moderate thrombocytopenia and significantly larger platelets than their heterozygous relatives, suggesting a stronger genetic impact on platelet size.
- The study also proposes a link between certain ACTN1 variants and heart valve defects, indicating that these genetic changes may affect both blood cell characteristics and cardiac health.
[Pedigree Analysis of ACTN1-Related Thrombocytopenia Attributed to A Novel Mutation].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
April 2022
Department of Hematology, Peking University International Hospital, Beijing 102206, China.
Unlabelled: AbstractObjective: To investigate the clinical phenotype and genotype of an ACTN1-associated thrombocytopenic family and explore its molecular pathogenesis.
Methods: All the family members' peripheral blood was collected for routine blood tests, blood smear, coagulation function, and platelet aggregation test. Flow cytometry was used to detect the expression of platelet CD41 and CD61.
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Hum Mutat
December 2019
Aix-Marseille Univ, INSERM, INRA, C2VN, Marseille, France.
The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1-related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We identified 15 rare, monoallelic, nonsynonymous and likely pathogenic ACTN1 variants in 20 index cases from 20 unrelated families.
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Br J Haematol
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Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
The inherited thrombocytopenias (IT) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN1-related thrombocytopenia (ACTN1-RT; Online Mendelian Inheritance in Man: 615193) is one of the most recently identified forms. It has been described as a mild autosomal dominant macrothrombocytopenia caused by mutations in ACTN1, a gene encoding for one of the two non-muscle isoforms of α-actinin.
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Unlabelled: The most common cause of thrombocytopenia in children is immune thrombocytopenia. Nevertheless, some atypical cases should evoke the hypothesis of genetic thrombocytopenia. Indeed, in the past years, 30 new genes had been described in the field of inherited thrombocytopenia.
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