Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
pubmed:
30
1
2021
medline:
7
4
2022
entrez:
29
1
2021
Statut:
ppublish
Résumé
Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel Whole exome sequencing was applied after a thorough clinical and neurological examination of the index patient and her family members. Results of neuropsychological testing were analyzed. Whole exome sequencing revealed a novel homozygous missense variant in the We present a novel genetic variant of the
Sections du résumé
BACKGROUND
Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel
METHODS
Whole exome sequencing was applied after a thorough clinical and neurological examination of the index patient and her family members. Results of neuropsychological testing were analyzed.
RESULTS
Whole exome sequencing revealed a novel homozygous missense variant in the
CONCLUSION
We present a novel genetic variant of the
Identifiants
pubmed: 33511595
doi: 10.1055/s-0040-1722686
doi:
Substances chimiques
Hippocalcin
149223-81-4
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
377-382Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.