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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Autores principales: Xue, Yan‐Yan, Huang, Xue‐Rong, Dong, Hai‐Lin, Wu, Zhi‐Ying, Li, Hong‐Fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446208/
https://www.ncbi.nlm.nih.gov/pubmed/34492745
http://dx.doi.org/10.1111/cns.13723
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author Xue, Yan‐Yan
Huang, Xue‐Rong
Dong, Hai‐Lin
Wu, Zhi‐Ying
Li, Hong‐Fu
author_facet Xue, Yan‐Yan
Huang, Xue‐Rong
Dong, Hai‐Lin
Wu, Zhi‐Ying
Li, Hong‐Fu
author_sort Xue, Yan‐Yan
collection PubMed
description 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.[Image: see text]
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spelling pubmed-84462082021-09-22 Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome Xue, Yan‐Yan Huang, Xue‐Rong Dong, Hai‐Lin Wu, Zhi‐Ying Li, Hong‐Fu CNS Neurosci Ther Letter to the Editor 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.[Image: see text] John Wiley and Sons Inc. 2021-09-07 /pmc/articles/PMC8446208/ /pubmed/34492745 http://dx.doi.org/10.1111/cns.13723 Text en © 2021 The Authors. CNS Neuroscience & Therapeutics Published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Xue, Yan‐Yan
Huang, Xue‐Rong
Dong, Hai‐Lin
Wu, Zhi‐Ying
Li, Hong‐Fu
Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
title Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
title_full Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
title_fullStr Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
title_full_unstemmed Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
title_short Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
title_sort identification of a large homozygous spg21 deletion in a chinese patient with mast syndrome
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8446208/
https://www.ncbi.nlm.nih.gov/pubmed/34492745
http://dx.doi.org/10.1111/cns.13723
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