homozygous deletion in SPG21 from exon 3 through exon 7, 37-year old chinese patient
Kinetic parameters
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References:
Title: Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome Xue YY, Huang XR, Dong HL, Wu ZY, Li HF Ref: CNS Neurosci Ther, :, 2021 : PubMed
A 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.