1 case of hereditary MYH9-related disease senile cataract family clinical features and gene mutations.docVIP

 PAGE \* MERGEFORMAT 13 1 case of hereditary MYH9-related disease senile cataract family clinical features and gene mutations Of: love Wangshun Lan Deng Xiangdong Zhang Shu-Fang Zhang Xiaojing Chuan Ping Yu [Abstract] Objective MYH9-related diseases in Hainan Province 1 case of families of patients with clinical manifestations of senile cataract and MYH9 mutations. Methods for the assessment of patients with clinical signs and laboratory, applied optics and electron microscopy of peripheral blood cell morphology and ultra structural analysis, on the MYH9 gene’s 40 exons and flanking regions were PCR amplified and sequenced to confirm mutations. Results of clinical manifestations and laboratory testing, the patient has the typical large platelets, thrombocytopenia and neutropenia in indulgence triple body disease, and the phenotype associated with long-term complex and diverse, such as hyperlipidemia, proteinuria, creatinine increased, cardiac insufficiency, elevated aminotransferases, asthma, rhinitis and other diseases, MYH9 gene exons and 40 no pathogenic mutations flanking region (excluding exon 25, a synonymous mutation type is A1143A). Conclusions The elderly cataract patients no pathogenic mutation in MYH9 gene, which has a severe clinical phenotype may be related to the existence of new gene mutations or new disease genes. [Keywords:] MYH9-related disease, senile cataract, clinical phenotypes, gene mutation [Abstract] Objective To characterize the clinical phenotypes and identify the mutations of the non muscle myosin heavy chain type A (NMMHC A) gene of the cataract with MYH9 related disease (MYH9 RD) in Hainan.Methods A screen was made for the presence or absence of abnormal hemostasis, Technique of light and electron microscope was applied to analyze the cell morphology and ultrastructure of peripheral blood, PCR was used to amplify all the 40 exons and franking regions of the MYH9 gene, and the amplified exon DNA was subjected to sequen