Homozygosity for a Novel
EIEE23
UPhD
UPiD
cortical blindness
cortical visual impairment
early infantile epileptic encephalopathy 23
loss of heterozygosity (LOH)
mUPiD
uniparental disomy (UPD)
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
02 Jul 2022
02 Jul 2022
Historique:
received:
03
06
2022
revised:
19
06
2022
accepted:
29
06
2022
entrez:
9
7
2022
pubmed:
10
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the genetic origin is only identified in half of the cases. We report the case of a female child initially diagnosed with Leber congenital amaurosis (LCA), an early-onset retinal dystrophy due to photoreceptor cell degeneration in the retina. The first examination at 9 months of age revealed no reaction to light or objects and showed wandering eye movements. Ophthalmological examination did not show any ocular abnormalities. The patient displayed mildly dysmorphic features and a global developmental delay. Brain MRI demonstrated pontine hypo-/dysplasia. The patient developed myoclonic epileptic seizures and epileptic spasms with focal and generalized epileptiform discharges on electroencephalogram (EEG) at the age of 16 months. Genetic screening for a potentially pathogenic DNA sequence variant by whole-exome sequencing (WES) revealed a novel, conserved, homozygous frameshift variant (c.5391delA, p.(Ala1798Leu
Identifiants
pubmed: 35806387
pii: ijms23137382
doi: 10.3390/ijms23137382
pmc: PMC9266905
pii:
doi:
Substances chimiques
DOCK7 protein, human
0
GTPase-Activating Proteins
0
Guanine Nucleotide Exchange Factors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
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