Genetic analysis of a pedigree affected with inherited thrombocytopenia caused by a novel mutation of MYH9 gene.
- Author:
Wenjun LIAO
1
;
Xiaocheng LUO
;
Xue ZHANG
;
Ping CHEN
;
Huayu WU
;
Wei SHU
;
Zhigang YUAN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; China; Female; Humans; Male; Molecular Motor Proteins; genetics; Molecular Sequence Data; Myosin Heavy Chains; genetics; Pedigree; Sequence Deletion; Thrombocytopenia; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2017;34(3):352-356
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study genetic mutations and clinical features of a pedigree affected with MYH9-related disorders from Guangxi.
METHODSBlood platelets were counted with a hemocytometer. Blood smear was carried out to detect the inclusion body in peripheral blood neutrophils. DNA and mRNA samples were extracted from blood samples from the members of the pedigree. Fragments of the MYH9 gene were amplified with PCR and directly sequenced.
RESULTSThe affected individuals presented with a triad of giant platelets, decreased platelet count and inclusion bodies in the neutrophils with variable expressivity. A heterozygous deletional mutation (c.5803delG) in exon 41 of the MYH9 gene was found in all of the 8 affected individuals, which led to a frame-shift and change of 26 amino acids at the C-end of the tail domain of nonmuscle myosin heavy chain IIA (NMMHC-IIA) (p.Ala1935Profs*12). The same mutation was not found among healthy members of the pedigree.
CONCLUSIONThe c.5803delG mutation probably underlies the MYH9-related disorders in this pedigree. The mutation has altered the C-end of the tail domain of the NMMHC-IIA protein, resulting in mild clinical symptoms in the affected individuals.
