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- Title
Blended Phenotype in a Case with Brain Malformation, Neurodevelopmental Disorder and Epilepsy.
- Authors
Karataş, Emine; Kiraz, Aslıhan; Karaman, Zehra Filiz; Per, Hüseyin; Dündar, Munis
- Abstract
One of the important causes of severe neuromotor developmental delay and epilepsy is malformations of cortical development (MCD) such as pachygyria, lissencephaly. Genes involved in neuronal cell proliferation, migration and post-migration cortical organization have been implicated in MCD. The CAMPAS1 gene, which provides microtubule and spectrin binding activity, is one of the rare causes that have been recently identified. Another rare cause of severe neuromotor developmental delay and epilepsy is he NBEA gene. It encodes the neurobeachin protein, a neuro-specific structural protein that plays a role in vesicle traffic and synaptic structure. In this study, we present a case with loss of function variant in these two rare genes. A proband 7-year-old female patient, only child of consanguineous parents, microcephaly, seizure, infantile spasm, neurodevelopmental retardation, hypotonia, pachygyria, corpus callosum agenesis, hypoplasia of the brain stem, spasticity in the extremities, nutrition problems, recurrent respiratory tract infection findings. Whole exome analysis of the patient revealed c.1153C>T p.Gln385* non-sense homozygous likely pathogenic pathogenic variant in CAMSAP1 gene and de novo c.6867G>A p.Trp2289* non-sense heterozygous pathogenic variant in NBEA gene. We considered it as a blended phenotype. In the literature, the case of these two genes together has not been reported before. There are limited case reports with these two genes. For this reason, it is thought that it will contribute to the literature. In this study, we emphasize that in the presence of complex and severe clinical findings, two or more genes may be responsible and further investigation may be required.
- Subjects
EPILEPSY; AGENESIS of corpus callosum; PHENOTYPES; SYNAPTIC vesicles; GENETIC variation; RESPIRATORY infections; CONSANGUINITY
- Publication
Gazi Medical Journal, 2024, Vol 35, p49
- ISSN
1300-056X
- Publication type
Article