Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay Article Swipe
Xianru Jiao
,
Manuela Morleo
,
Vincenzo Nigro
,
Annalaura Torella
,
Stefano D’Arrigo
,
Claudia Ciaccio
,
Chiara Pantaleoni
,
Pan Gong
,
Katheryn Grand
,
Pedro A. Sanchez‐Lara
,
Joel B. Krier
,
Elizabeth L. Fieg
,
Andrew B. Stergachis
,
Xiaodong Wang
,
Zhixian Yang
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.3389/fphar.2020.599191
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.3389/fphar.2020.599191
Objective: To establish and broaden the phenotypic spectrum of secretory carrier membrane protein ( SCAMP5) associated with epilepsy and neurodevelopmental delay. Methods: A Chinese patient was identified at the First Hospital of Peking University, and the three unrelated patients were recruited from two different countries (Italy and United States) through GeneMatcher. SCAMP5 pathogenic variants were identified by whole exome sequencing; clinical data of the patients were retrospectively collected and analyzed. Result: The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk. All four unrelated patients were found to have the same heterozygous pathogenic SCAMP5 de novo variant (p. Gly180Trp). Conclusion: Epilepsy, severe developmental delay, abnormal neurological exam findings, with or without ASD or variably dysmorphic features and were common in patients with SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI findings were not consistent, but diverse and nonspecific. The motor ability of patients with heterozygous SCAMP5 variant might have a regressive course; language development was more severely affected.
Related Topics
Concepts
Pediatrics
Epilepsy
Global developmental delay
Medicine
Intellectual disability
Exome sequencing
dup
Language delay
Autism spectrum disorder
Neurodevelopmental disorder
Speech delay
Autism
Magnetic resonance imaging
Seizure types
Psychology
Psychiatry
Phenotype
Language development
Genetics
Radiology
Biology
Gene
Developmental psychology
Gene duplication
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fphar.2020.599191
- https://www.frontiersin.org/articles/10.3389/fphar.2020.599191/pdf
- OA Status
- gold
- Cited By
- 5
- References
- 13
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3114118716
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3114118716Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fphar.2020.599191Digital Object Identifier
- Title
-
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-12-18Full publication date if available
- Authors
-
Xianru Jiao, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Stefano D’Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Pan Gong, Katheryn Grand, Pedro A. Sanchez‐Lara, Joel B. Krier, Elizabeth L. Fieg, Andrew B. Stergachis, Xiaodong Wang, Zhixian YangList of authors in order
- Landing page
-
https://doi.org/10.3389/fphar.2020.599191Publisher landing page
- PDF URL
-
https://www.frontiersin.org/articles/10.3389/fphar.2020.599191/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.frontiersin.org/articles/10.3389/fphar.2020.599191/pdfDirect OA link when available
- Concepts
-
Pediatrics, Epilepsy, Global developmental delay, Medicine, Intellectual disability, Exome sequencing, dup, Language delay, Autism spectrum disorder, Neurodevelopmental disorder, Speech delay, Autism, Magnetic resonance imaging, Seizure types, Psychology, Psychiatry, Phenotype, Language development, Genetics, Radiology, Biology, Gene, Developmental psychology, Gene duplicationTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
5Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3, 2023: 1, 2022: 1Per-year citation counts (last 5 years)
- References (count)
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13Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| primary_location.raw_source_name | Frontiers in Pharmacology |
| primary_location.landing_page_url | https://doi.org/10.3389/fphar.2020.599191 |
| publication_date | 2020-12-18 |
| publication_year | 2020 |
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