[Nonmuscle myosin heavy chain 9 gene mutations related disease: a family report].
OBJECTIVE
To improve the recognition of nonmuscle myosin heavy chain 9 gene (MYH9) mutations related disease.


METHODS
Clinical information and laboratory data of a family of MYH9-related disease was reported. Cytomorphology examination of peripheral blood and bone marrow smears were stained with Wright-Giemsa stain. Ultrastructural studies of peripheral blood were carried out. Surface expression of platelet glycoproteins was investigated by flow cytometry. The MYH9 mRNA was isolated from EBV-transformed peripheral blood leukocytes and analyzed by reverse-transcription-polymerase chain reaction (RT-PCR) and direct sequencing. Meanwhile, mutation analysis of the MYH9 gene was performed by PCR and direct sequencing.


RESULTS
Both the patient and his father had large platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (Dohle-like bodies). Platelet glycoproteins (GPIb) of the patient and his father were also slightly lower than normal. In the patient, a heterozygous mutation (5797C>T) in the MYH9 gene was detected both at the RNA level and the genomic DNA level. His father carried the same mutation.


CONCLUSIONS
Patient and his father both had giant platelets, thrombocytopenia, leukocyte inclusions and mutation of MYH9. The diagnosis of MYH9-related disease was established.
Hua
Ying
Y
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Wang
Fang
F
Zhao
Wei hong
Wh
Lu
Wei wei
Ww
Zhang
Hong wen
Hw
Li
Jian guo
Jg
Ding
Jie
J
Lu
Xin tian
Xt
D000328:Adult; D001483:Base Sequence; D001606:Bernard-Soulier Syndrome / Q000235:genetics; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006098:Granulocytes / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000235:genetics*
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains