Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
/ genetics
Child
Chromosomes, Human, Pair 4
Congenital Disorders of Glycosylation
/ genetics
Humans
Membrane Proteins
/ genetics
Microtubule-Associated Proteins
/ genetics
Retinal Dystrophies
/ genetics
Retinitis Pigmentosa
/ genetics
Uniparental Disomy
/ genetics
RP1-related retinitis pigmentosa
SRD5A3 gene
congenital disorders of glycosylation
retinal dystrophy
uniparental isodisomy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
16 02 2022
16 02 2022
Historique:
received:
18
01
2022
revised:
08
02
2022
accepted:
10
02
2022
entrez:
25
2
2022
pubmed:
26
2
2022
medline:
20
4
2022
Statut:
epublish
Résumé
Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophies caused by UPD. WES analysis was performed for two patients and their parents, who were not consanguineous. Functional analysis was performed in cases suspected of congenital disorders of glycosylation (CDG). We obtained clinical case data and reviewed the literature. In case 1, a novel c.57G>C, p.(Trp19Cys) variant in There have been limited reports of retinal dystrophy caused by UPD, suggesting that it is rare. Genetic counseling may be encouraged in pediatric cases of retinal dystrophy.
Identifiants
pubmed: 35205402
pii: genes13020359
doi: 10.3390/genes13020359
pmc: PMC8872353
pii:
doi:
Substances chimiques
Membrane Proteins
0
Microtubule-Associated Proteins
0
RP1 protein, human
0
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
EC 1.3.99.5
SRD5A3 protein, human
EC 1.3.99.5
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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