Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
D-bifunctional protein
Neonatal seizures
Peroxisomal
Retinopathy
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
01
06
2020
revised:
19
07
2020
accepted:
20
07
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
10
9
2020
Statut:
epublish
Résumé
Peroxisomal D-bifunctional protein (DBP) deficiency is an autosomal recessive disorder historically described as a Zellweger-like syndrome comprising neonatal seizures, retinopathy, hearing loss, dysmorphic features, and other complications. The Patient 1 presented neonatally with hypotonia and seizures, and later on developed global developmental delay and regression, sensorineural hearing loss, nystagmus and cortical blindness. The brain MRI demonstrated bilateral peri-sylvian polymicrogyria. Whole exome sequencing revealed 2 mutations in the We describe 4 patients with variable and diverse clinical picture of DBP deficiency and particularly emphasize the clinical, biochemical, and neuroimaging characteristics. Interestingly, the clinical phenotype varied even between patients with the exact two mutations in the
Identifiants
pubmed: 32904102
doi: 10.1016/j.ymgmr.2020.100631
pii: S2214-4269(20)30077-X
pii: 100631
pmc: PMC7451421
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100631Informations de copyright
© 2020 The Authors.
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