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Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
CNS Neuroscience & Therapeutics ( IF 4.8 ) Pub Date : 2021-09-07 , DOI: 10.1111/cns.13723 Yan-Yan Xue 1 , Xue-Rong Huang 2 , Hai-Lin Dong 1 , Zhi-Ying Wu 1 , Hong-Fu Li 1
CNS Neuroscience & Therapeutics ( IF 4.8 ) Pub Date : 2021-09-07 , DOI: 10.1111/cns.13723 Yan-Yan Xue 1 , Xue-Rong Huang 2 , Hai-Lin Dong 1 , Zhi-Ying Wu 1 , Hong-Fu Li 1
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37-year old man presented a slight delay in early developmental milestones, cognitive decline, difficulty walking, cerebellar signs and extrapyramidal signs. Brain magnetic resonance imaging (MRI) showed a thin corpus callosum, cerebral atrophy, non-specific white-matter hyperintensity, and cerebellar atrophy. The genetic test revealed a putative homozygous deletion in SPG21 from exon 3 through exon 7, which was further validated by long-range primer-walking PCR. This is the first report of Chinese patient with Mast syndrome carrying a large homozygous SPG21 deletion.
更新日期：2021-09-17
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