Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome

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 cerebe...

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Bibliographic Details
Published in:CNS neuroscience & therapeutics 2021-10, Vol.27 (10), p.1251-1253
Main Authors: Xue, Yan‐Yan, Huang, Xue‐Rong, Dong, Hai‐Lin, Wu, Zhi‐Ying, Li, Hong‐Fu
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adult
Amino acids
Asians
Ataxia
Brain mapping
Central nervous system
Central nervous system diseases
Consent
Dementia - genetics
Fecal incontinence
Feces
Functional magnetic resonance imaging
Gene Deletion
Gene expression
Humans
Laboratories
Letter to the Editor
Magnetic resonance imaging
Male
mRNA turnover
Muscle strength
Mutation
Nervous system
Neural networks
Nonsense-mediated mRNA decay
Patients
Pedigree
Proteins
Sequence Deletion
Spastic Paraplegia, Hereditary - genetics
Whole Exome Sequencing
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Summary: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.
ISSN:1755-5930
1755-5949
DOI:10.1111/cns.13723