Open AccessIdentification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
Author(s) -
Xue YanYan,
Huang XueRong,
Dong HaiLin,
Wu ZhiYing,
Li HongFu
Publication year - 2021
Publication title -
cns neuroscience and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 69
eISSN - 1755-5949
pISSN - 1755-5930
DOI - 10.1111/cns.13723
Subject(s) - hyperintensity , corpus callosum , exon , magnetic resonance imaging , atrophy , pathology , white matter , medicine , cerebellum , neuroscience , psychology , biology , genetics , radiology , gene
A37‐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.