de novo Post-zygotic Somatic Mutation of PHEX in Mosaic Fashion Cause X-linked Hypophosphatemic Rickets
作者单位：School of MedicineZhejiang university James D Watson Institute of genome Sciences Department of Pathology and Laboratory MedicineUniversity of Rochester Medical Center
会议名称：《2014浙江省医学会医学遗传学学术年会》
会议日期：2014年
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
关 键 词：X linked dominant disorder hypophosphatemic rickets PHEX gene de novo mutation mosaic fashion
摘 要：Background:X-linked hypophosphatemic rickets(XLHR),an X linked dominant disorder,is characterized mainly by renal phosphate wasting with hypophosphatemia,short stature and abnormal bone mineralization.A variety of mutations in PHEX,the only gene causing XLHR,have been identified in previous *** somatic mutation in XLHR was rarely ***:All 22 exons and their exon-intron boundaries in the PHEX gene were screened using PCR followed by *** mutation effect was subsequently predicted via *** clone assay was performed to confirm the heterozygous allele and estimate the *** Real-time PCR was applied to determine the copy number of PHEX Result:A novel splice site mutation c.1769-1GA was identified in this proband,and it probably cause frame shift and induce a premature stop codon,resulting in loss of function of *** any family history of XLHR was *** analysis indicates normal number and structure of ***-Time PCR indicates the normal copy number of PHEX,supporting the result of karyotype analysis and ruling out the possibility of mutation on extra gene *** this male proband,TA clone assay on DNA from peripheral blood shows the frequency of normal(G)to mutant allele(A)on X chromosome as 19:***:This novel mutation is de novo in mosaic fashion that may be induced during early post-zygotic *** mosaic somatic mutation of PHEX into consideration is strongly suggested in genetic counseling and etiology research for XLHR.