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Published on: October 20, 2019
[Molecular diagnosis of a family with May-Hegglin anomaly]
1Department of Laboratory Medicine, Affiliated Hospital of Guilin Medical College, Guilin, Guangxi 541001, China. mown163@163.com.
Insights
A novel MYH9 gene variant, c.5521G>A, is linked to May-Hegglin anomaly (MHA) in a family. Thromboelastogram assessment of platelet aggregation may predict bleeding risk in MHA patients.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder characterized by macrothrombocytopenia and'});
- Observation
Observation:
- Genetic analysis identified a heterozygous c.5521G>A missense variant in exon 38 of the MYH9 gene in affected individuals.
- This variant results in a p.Glu1841Lys amino acid substitution.
- Immunofluorescence revealed inclusions containing non-muscle myosin heavy chain IIA (NMMHC-II A) in leukocytes.
Findings:
- The identified MYH9 variant co-segregated with the MHA phenotype within the studied pedigree.
- The proband exhibited enhanced platelet aggregation function, as indicated by thromboelastogram analysis.
Implications:
- The c.5521G>A variant in the MYH9 gene is implicated as the molecular cause of MHA in this family.
- Thromboelastogram assessment of platelet aggregation may serve as a predictive tool for bleeding risk in MHA patients.
Objective:
To explore the molecular basis for a pedigree affected with May-Hegglin anomaly (MHA).
Methods:
Peripheral blood samples were collected and subjected to DNA extraction. Exons 1, 10, 16, 24, 25, 26, 30, 31, 33, 38 and 40 and flanking sequences of the MYH9 gene were subjected to PCR amplification and Sanger sequencing. Changes in protein expression were determined by an indirect immunofluorescence assay. Platelet aggregation function of the proband was assessed by thromboelastogram.
Results:
The proband and his second son both carried a heterozygous 5521G>A (GAG to AAG) missense variant in exon 38 of the MYH9 gene, leading to p.Glu1841Lys substitution at position 1841 of amino acid sequence. Immunofluorescence showed inclusions containing NMMHC-II A. Thromboelastogram suggested enhanced platelet aggregation function of the proband.
Conclusion:
The c.5521G>A variant of MYH9 gene has co-segregated with the phenotype of MHA in this pedigree. To assess the aggregation function of platelet by thromboelastogram can predict the risk of bleeding in MHA patients.
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