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

ABSTRACT: 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.

SUBMITTER: Xue YY 

PROVIDER: S-EPMC8446208 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature