Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 678-682, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-353890
ABSTRACT
<p><b>OBJECTIVE</b>To explore the method for early diagnosis and pathogenesis of MYH9-related syndrome through analysis of the clinical manifestation and gene mutation of a Chinese family with MYH9-related syndrome.</p><p><b>METHODS</b>Peripheral blood samples were collected from a three-generation Chinese family with MYH9-related syndrome (11 individuals, including 3 patients) and 100 healthy individuals. Polymerase chain reaction (PCR) amplification and direct sequencing of DNA were performed to analyze mutations of MYH9 gene.</p><p><b>RESULTS</b>Thrombocytopenia, increased volume of platelet, and granulocyte inclusion bodies were found in the patients with MYH9-related syndrome via a peripheral blood test. A missense mutation of a base pair (G-A) in exon 30 was revealed by PCR amplification and direct sequencing of MYH9 of the proband. That lead to Asp-Asn substitution at position 1424 (D1424N mutation). The mutation was the same as in other patients with MYH9-related syndrome. It was not found in healthy people from the Chinese family or in the other 100 healthy individuals.</p><p><b>CONCLUSIONS</b>Patients with MYH9-related syndrome show diverse symptoms. Mutation of MYH9 gene may be the molecular mechanism of MYH9-related syndrome, and D1424N mutation of MYH9 has not been reported in Chinese people. Early diagnosis of MYH9-related syndrome can be carried out by investigating family history and making early examinations.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thrombocytopenia
/
Myosin Heavy Chains
/
Molecular Motor Proteins
/
Asian People
/
Genetics
/
Mutation
Type of study:
Screening study
Limits:
Adult
/
Aged
/
Child, preschool
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2012
Type:
Article
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