ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization-Reference-Cited by-同舟云学术

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

Published:2015-01-29 Issue:5 Volume:125 Page:869-872
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Bottega Roberta¹,Marconi Caterina²,Faleschini Michela³,Baj Gabriele⁴,Cagioni Claudia⁵,Pecci Alessandro⁵,Pippucci Tommaso²,Ramenghi Ugo⁶,Pardini Simonetta⁷,Ngu Loretta⁸,Baronci Carlo⁹,Kunishima Shinji¹⁰,Balduini Carlo L.⁵,Seri Marco²,Savoia Anna¹²³,Noris Patrizia⁵

Affiliation:

1. Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy;

2. Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy;

3. Department of Medical Sciences and

4. Department of Life Sciences, University of Trieste, Trieste, Italy;

5. Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;

6. Hematology Unit, Pediatric Department, University of Torino, Torino, Italy;

7. Istituto di Ematologia, Azienda Ospedaliero-Universitaria di Sassari, Sassari, Italy;

8. Royal Devon & Exeter Hospital, Devon, United Kingdom;

9. Department of Pediatric Hematology and Oncology, Pediatric Hospital “Bambino Gesù”, Rome, Italy; and

10. Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan

Abstract

Key Points ACTN1 mutations were identified in 10 of 239 families with inherited thrombocytopenia of unknown origin. ACTN1-related thrombocytopenia is characterized by mild thrombocytopenia with platelet macrocytosis and low risk for bleeding.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/5/869/1388742/869.pdf

Reference13 articles.

1. Genetics of familial forms of thrombocytopenia.;Balduini;Hum Genet,2012

2. Congenital macrothrombocytopenias.;Kunishima;Blood Rev,2006

3. Inherited platelet disorders.;Nurden;Haemophilia,2012

4. ACTN1 mutations cause congenital macrothrombocytopenia.;Kunishima;Am J Hum Genet,2013

Cited by 50 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

2. Machine learning identifies novel coagulation genes as diagnostic and immunological biomarkers in ischemic stroke;Aging;2024-04-03

3. How I diagnose and treat neonatal thrombocytopenia;Blood;2023-02-14

4. Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup;Haematologica;2022-12-15

5. “CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP);Frontiers in Pediatrics;2022-11-22