A Chinese family with fragile X syndrome and atypical Becker muscular dystrophy
作者单位：Key Laboratory of birth defects prevention and control Department of Clinical LaboratoryLiuzhou Municipal Maternity and Child Healthcare Hospital Center of Prenatal diagnosisLiuzhou Municipal Maternity and Child Healthcare Hospital
会议名称：《第十四次全国医学遗传学学术会议》
会议日期：2015年
学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 071007[理学-遗传学] 100204[医学-神经病学] 10[医学]
关 键 词：Fragile X syndrome Duchenne muscular dystrophy FMR1 gene DMD gene Chromosome aberrations
摘 要：Background:The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region,containing the(CGG)n repeat expansion in the FMR1gene is associated with fragile X syndrome;and rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies(DMD or BMD).Methods:The family was analyzed by polymerase chain reaction,multiplex ligation—dependent probe amplification(MLPA),PCR-CE microfluidic DNA analysis system and haplotype ***:We report on a Chinese family with two affected boys,the elder diagnosed with fragile X syndrome and atypical Duchenne or Becker muscular dystrophy,the younger with fragile X *** mother proved to be an asymptomatic carrier of the two non-contiguous mutation events,involving the FMR1gene(CGG)n repeat expansion and the DMD gene ***:To the best of our knowledge,this is the rare description of an asymptomatic carrier of two different X-linked disorders,involving severe genetic rearrangements on both long and short arms of the X *** boy with fragile X syndrome has inherited a second recombinant maternal X chromosome,this way inheriting the FMR1 expansion,originating most probably from different maternal Xes and excluding the DMD gene *** transmission of these extremely defective maternal chromosomes to the next generation involved several recombinations.