Journal of Shandong University (Health Sciences) ›› 2019, Vol. 57 ›› Issue (11): 78-82.doi: 10.6040/j.issn.1671-7554.0.2019.482

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A case report and literature review of complex heterozygous SYNE1 mutation with autosomal recessive cerebellar ataxia type1

HU Liping1, WANG Le2, JIN Liang1, LIU Yanxia1, CUI Dongqing1, CAO Lili1   

  1. 1. Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China;
    2. Department of Neurology, Peoples Hospital of Dezhou, Dezhou 253056, Shandong, China
  • Published:2022-09-27

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Abstract: Objective To search for the disease-causing gene in a family with autosomal recessive cerebellar ataxia type 1(ARCA1). Methods The young female with chronic progressive ARCA received clinical examination, neuroimaging, target region capture and high-throughput sequencing. Results Target region capture sequencing yielded compound heterozygous mutations in exon 67 at codon 10 887(c.10887dupT)and exon 41 at codon 5 995(c.5995A>2T, p. K1999X)of the SYNE1 gene. The results of Sanger sequencing were identified in the patients parents. Conclusion Two novel compound heterozygous mutations in SYNE1 are identified and an ARCA1 family with novel SYNE1 gene mutation is reported for the first time in China.

Key words: Autosomal recessive cerebellar ataxia type 1, SYNE1 gene mutations, High-throughput sequencing, Ataxia

CLC Number: 

  • R744.7
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