Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling.
Binding Sites
Carrier Proteins
/ genetics
Child, Preschool
Computer Simulation
DNA Mutational Analysis
Egypt
Family Health
Genetic Variation
Haplotypes
Humans
Light Signal Transduction
Male
Mutation
Mutation, Missense
Peripheral Nervous System Diseases
/ metabolism
Peripherins
/ genetics
Protein Folding
Retinal Degeneration
/ metabolism
Retinal Photoreceptor Cell Outer Segment
/ metabolism
Retinitis Pigmentosa
/ metabolism
rho GTP-Binding Proteins
/ genetics
PRPH2
RHO
RLBP1
Retinitis pigmentosa punctata albescens
rHTV
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:
27 Mar 2021
27 Mar 2021
Historique:
received:
12
03
2021
revised:
23
03
2021
accepted:
25
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
9
7
2021
Statut:
epublish
Résumé
Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with healthy consanguineous parents. Mutational analysis of four RPA causative genes was realized by Sanger sequencing on both probands, and detected variants were subsequently genotyped in their parents. Afterwards, found variants were deeply, statistically, and in silico characterized to determine their possible effects and association with RPA. Both brothers carry three missense Despite several limitations, the study might be a relevant step towards detection of novel scenarios in RPA etiopathogenesis.
Sections du résumé
BACKGROUND
BACKGROUND
Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with healthy consanguineous parents.
METHODS
METHODS
Mutational analysis of four RPA causative genes was realized by Sanger sequencing on both probands, and detected variants were subsequently genotyped in their parents. Afterwards, found variants were deeply, statistically, and in silico characterized to determine their possible effects and association with RPA.
RESULTS
RESULTS
Both brothers carry three missense
CONCLUSIONS
CONCLUSIONS
Despite several limitations, the study might be a relevant step towards detection of novel scenarios in RPA etiopathogenesis.
Identifiants
pubmed: 33801777
pii: ijms22073484
doi: 10.3390/ijms22073484
pmc: PMC8036374
pii:
doi:
Substances chimiques
11-cis-retinal-binding protein
0
Carrier Proteins
0
PRPH2 protein, human
0
Peripherins
0
rho GTP-Binding Proteins
EC 3.6.5.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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