De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
(2020) In European Journal of Human Genetics 28(6). p.763-769- Abstract
Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and... (More)
Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and missense variants in CAMTA1 can cause a spastic ataxia syndrome as the main phenotype.
(Less)
- author
- publishing date
- 2020-03-10
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Human Genetics
- volume
- 28
- issue
- 6
- pages
- 763 - 769
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:32157189
- scopus:85081693407
- ISSN
- 1018-4813
- DOI
- 10.1038/s41431-020-0600-5
- language
- English
- LU publication?
- no
- id
- 991c6a84-914c-498d-b800-16b3f885188c
- date added to LUP
- 2020-03-31 08:55:19
- date last changed
- 2024-05-29 10:50:01
@article{991c6a84-914c-498d-b800-16b3f885188c,
abstract = {{<p>Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four patients predominantly manifested features of ataxia and/or spasticity. Borderline intellectual disability and dysmorphic features were both present in one patient only, and other neurological and behavioural symptoms were variably present. Neurodevelopmental delay was found to be mild. Our findings indicate that also nonsense, frameshift and missense variants in CAMTA1 can cause a spastic ataxia syndrome as the main phenotype.</p>}},
author = {{Wijnen, Iris G.M. and Veenstra-Knol, Hermine E. and Vansenne, Fleur and Gerkes, Erica H. and de Koning, Tom and Vos, Yvonne J. and Tijssen, Marina A.J. and Sival, Deborah and Darin, Niklas and Vanhoutte, Els K. and Oosterloo, Mayke and Pennings, Maartje and van de Warrenburg, Bart P. and Kamsteeg, Erik Jan}},
issn = {{1018-4813}},
language = {{eng}},
month = {{03}},
number = {{6}},
pages = {{763--769}},
publisher = {{Nature Publishing Group}},
series = {{European Journal of Human Genetics}},
title = {{De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability}},
url = {{http://dx.doi.org/10.1038/s41431-020-0600-5}},
doi = {{10.1038/s41431-020-0600-5}},
volume = {{28}},
year = {{2020}},
}