Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome

SHI Rui-Ming; CAO Xiao-Qin; LUO Shu-Fang; FANG Xia-Ling; WANG Rong-Hua; LIU Zhi-Gang

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Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (09) : 678-682.

CLINICAL RESEARCH

Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome

SHI Rui-Ming, CAO Xiao-Qin, LUO Shu-Fang, FANG Xia-Ling, WANG Rong-Hua, LIU Zhi-Gang

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OBJECTIVE: 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. METHODS: Peripheral blood samples were collected from a three-generation Chinese family with MYH9-relatedsyndrome (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. RESULTS: 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. CONCLUSIONS: 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.

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SHI Rui-Ming, CAO Xiao-Qin, LUO Shu-Fang, FANG Xia-Ling, WANG Rong-Hua, LIU Zhi-Gang. Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(09): 678-682

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