A new mutation of MYH9 gene in a May-Hegglin anomaly family

Abstract

Objective To identify a MYH9 gene mutation in a May-Hegglin abnormal family in China.Methods Clinical information and laboratory data of a family of MHA was collected.Cytomorphologic examination of peripheral blood and bone marrow smears were performed with Wright-Giemsa stain.The liver function tests,renal function tests,clot retraction time,platelet function tests and coagulation function tests were performed.The sequences of exons 1,10,25,26,30,38,39 and 40 in the MYH9 gene of the two patients and the normal controls were amplified with PCR.and the PCR products were sequenced.Results The proband and his affected mother manifested a typical triad of thrombocytopenia,giant platelets,and inclusion bodies in leukocytes.while their test results of liver function,renal function,clot retraction time,platelet function and coagulation function test were normal.A 4270G→A mutation(GAG→AAG)in the exon 30 of the MYH9 gene existed in the proband and his affected mother,while the same mutation in normal controls could not be found.Conclusions The cases of May-Heggelin anomaly showed typical triad of thrombocytopenia,giant platelets,and inclusion bodies in leukocytes.Mutation of the MYH9 gene exists in exon 30(Asp1424Asn)in this family and the new point mutation was first reported in China. Key words: May-Hegglin Anomaly; Hereditary diseases; Phenotype; Myosin heavy chains; Mutation