Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Dec 26;26(1):16.
doi: 10.1007/s10048-024-00795-3.

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype

Emine Karatas  1 , Ayten Gulec  2 , Maide Korkmaz  1 , Zehra Filiz Karaman  3 , Aslihan Kiraz  1 , Huseyin Per  2 , Munis Dundar  4
Affiliations
Case Reports

Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype

Emine Karatas et al. Neurogenetics. .

Abstract

In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism. We report a 7-year-old girl with early-onset epilepsy, severe neuromotor developmental delay and brain malformation. Whole exome analysis of the patient revealed c.1153C > T p.Gln385* nonsense homozygous likely pathogenic variant in CAMSAP1 gene and c.6867G > A p.Trp2289* nonsense heterozygous pathogenic de novo variant in NBEA gene. A small number of cases associated with these genes have been reported. We report the 8th case reported in the CAMSAP1 gene and the overlapping phenotype in these two genes.

Keywords: CAMSAP1; NBEA; Neuromotor developmental delay, epilepsy; Overlapping phenotype; Pachygyria.

PubMed Disclaimer

Conflict of interest statement

Declarations. Statement of ethics: The research was conducted ethically in accordance with the World Medical Association Declaration of Helsinki. Patient’s parents have given their written informed consent to publish their case. Whole exome sequencing including was performed on the patient upon receiving informed consent from patient’s parents. Our institution does not require ethical approval for reporting individual cases. Consent for publication: Written informed consent was obtained from the patient for publication of this case report and any accompanying images. Conflict of Interest Statement: The authors declare no competing interests.

References

    1. Parrini E et al (2016) Genetic basis of brain malformations. Mol Syndromol 7(4):220–233 - DOI - PubMed - PMC
    1. Juric-Sekhar G, Hevner RF (2019) Malformations of cerebral cortex development: molecules and mechanisms. Annu Rev Pathol 14:293–318 - DOI - PubMed - PMC
    1. Hendershott MC, Vale RD (2014) Regulation of microtubule minus-end dynamics by CAMSAPs and patronin. Proc Natl Acad Sci U S A 111(16):5860–5865 - DOI - PubMed - PMC
    1. Jiang K et al (2014) Microtubule minus-end stabilization by polymerization-driven CAMSAP deposition. Dev Cell 28(3):295–309 - DOI - PubMed
    1. Zhou Z et al (2020) CAMSAP1 breaks the homeostatic microtubule network to instruct neuronal polarity. Proc Natl Acad Sci U S A 117(36):22193–22203 - DOI - PubMed - PMC

Publication types

Substances