Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family. Platelets 2016 Nov;27(7):712-715
Date
11/05/2016Pubmed ID
27123948DOI
10.3109/09537104.2016.1171305Scopus ID
2-s2.0-84964490706 (requires institutional sign-in at Scopus site) 17 CitationsAbstract
The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear to be heterogeneous. Except for a targeted molecular genotyping approach, there is no distinct clinical or laboratory phenotype that has been specifically associated with this particular gene mutation. Such heterogeneity could be due to variations in mutation and genetic background in different families. To understand the phenotypic heterogeneity, we thoroughly studied one affected family using the International Society for Thrombosis and Haemostasis bleeding assessment tool and both clinically validated standard and esoteric platelet testing (electron microscopy (EM) and flow cytometry). We found that decreased platelet aggregation with arachidonic acid and epinephrine agonists was common in affected family members. EM studies demonstrated persistent borderline low mean dense granules per platelet, decreased alpha granules and an increased canalicular network pattern in all affected members. Since these characteristics are subtle or non-pathognomonic, molecular testing for ANKRD26 mutation remains the most reliable test to render a diagnosis and should be considered when evaluating a patient or family with congenital thrombocytopenia, particularly if there is a history of myeloid neoplasms.
Author List
Perez Botero J, Chen D, He R, Viswanatha DS, Majerus JA, Coon LM, Nguyen PL, Reichard KK, Oliveira JL, Tefferi A, Gangat N, Pruthi RK, Patnaik MMAuthor
Juliana Perez Botero MD Assistant Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Alleles
Blood Platelets
Family
Female
Genetic Association Studies
Genetic Testing
Humans
Intercellular Signaling Peptides and Proteins
Male
Middle Aged
Mutation
Nuclear Proteins
Pedigree
Phenotype
Platelet Aggregation
Platelet Count
Thrombocytopenia
Young Adult
