SQSTM1 突变：首例突尼斯病例描述及文献复习。
SQSTM1 mutation: Description of the first Tunisian case and literature review.
机构信息
LR18SP04, Department of Child and Adolescent Neurology, University of Tunis El Manar, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
Laboratory of Medical Analyzes and Human Genetics, Jasmins Medical Center, Tunis, Tunisia.
出版信息
Mol Genet Genomic Med. 2020 Dec;8(12):e1543. doi: 10.1002/mgg3.1543. Epub 2020 Nov 2.
BACKGROUND
Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported.
METHODS AND RESULTS
We report on the first Tunisian case of an 11-year-old girl with cerebellar ataxia, chorea and ophthalmoparesis. Brain MRI was normal. Whole-exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4).
CONCLUSION
By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.
背景
SQSTM1 基因突变最近被确定为一种罕见的进行性儿童神经退行性疾病的原因。到目前为止，仅在 10 个无关家庭中报告了 25 例患者。
方法和结果
我们报告了首例来自突尼斯的 11 岁女孩小脑共济失调、舞蹈病和眼肌瘫痪的病例。脑 MRI 正常。全外显子组测序显示 SQSTM1 基因（GenBank：NM_003900.4）中的纯合突变 c.823_824del(p.Ser275Phefs*17)。
结论
通过将我们的数据与文献数据进行汇总，我们描绘了这种罕见神经退行性疾病的表型谱，并强调了其遗传异质性。
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