【摘 要】
：
While we previously reported heterozygous SLC33A1 p.Ser113Arg (c.339T＞G) mutation as the cause for SPG42, hereditary spastic paraplegia (HSP) phenotype was recently reported to be absent in heterozygo
【机 构】
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The Key Laboratory of Experimental Teratology,Ministry of Education and Department of Genetics,Shand
【出 处】
：
2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
While we previously reported heterozygous SLC33A1 p.Ser113Arg (c.339T＞G) mutation as the cause for SPG42, hereditary spastic paraplegia (HSP) phenotype was recently reported to be absent in heterozygous carriers of other SLC33A1 mutations, raising the possibility that genes other than SLC33A1 might be responsible for SPG42.In this report, using whole exome sequencing, we surveyed all the potential pathogenic variants in the SPG42 family and confirmed that SLC33A1 p.Ser113Arg is the only mutation cosegregating with HSP phenotype.
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