PRPS1基因p.C60Y新突变导致CMTX5综合征型聋的临床表型及分子病因学研究
The Clinical Phenotype and Molecular Etiology of CMTX5 Syndromic Caused by a Novel Mutation of PRPS1 p.C60Y
许军;林妘;杨涛
1:上海交通大学医学院附属第九人民医院耳鼻咽喉头颈外科
2:上海交通大学医学院耳科学研究所
3:上海市耳鼻疾病转化医学重点实验室
摘要[Abstract] Objective To study the clinical and genetic features of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) in one Chinese Han deaf family. Methods The clinical phenotypes and pathogenic factors of the family were summarized by family investigation, clinical examination and genetic analysis. The proband and his parents were analyzed using the whole genome sequencing from the peripheral blood DNA，Sanger sequencing verification and reverse transcription fluorescence quantitative PCR of PRPS1 gene at the mRNA expression level. Results There were 4 people among two generations in this family. The proband (Ⅱ-2, 6 years old) had early-onset sensorineural hearing impairment and motor deficits, which were typical clinical phenotypes of CMTX5. A de novo p. C60Y(c.179G>A)missense mutation of PRPS1 that had not been reported before was found via whole genome sequencing, which was consistent with X-linked inheritance in the family members. The mutation was identified as causative in this family considering the previous PRPS1 genotype-phenotype. There was no significance of the mRNA expression level of PRPS1 between the mutation and the wildtype in whole blood by fluorescence quantitative PCR. Conclusion The X-linked recessive CMTX5syndromic deafness in the family is caused by the p. C60Y mutation of PRPS1.
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