Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
Aged
Complement Factor H
/ genetics
Complement Factor I
/ genetics
Female
Heterozygote
Humans
Immunoglobulins
/ genetics
Intracellular Signaling Peptides and Proteins
/ genetics
Jews
/ genetics
Macular Degeneration
/ ethnology
Male
Membrane Proteins
/ genetics
Middle Aged
Mutation
Pedigree
Penetrance
Proteins
/ genetics
WES (whole-exome sequencing)
degeneration
genetics
macula
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
18 10 2019
18 10 2019
Historique:
received:
01
01
1970
revised:
02
10
2019
accepted:
15
10
2019
entrez:
23
10
2019
pubmed:
23
10
2019
medline:
11
3
2020
Statut:
epublish
Résumé
To identify rare genetic variants in early age-related macular degeneration (AMD) utilizing whole-exome sequencing (WES). Eight non-related early-AMD families of different Jewish ethnicities were ascertained. Initial mutation screening (phase-1) included common Phase-1 identified three families carrying Rare, high-penetrance variants have a profound contribution to early-AMD pathogenesis. Utilization of WES in genetic research of multifactorial diseases as AMD, allows a thorough comprehensive analysis with the identification of previously unreported rare variants.
Identifiants
pubmed: 31635417
pii: genes10100825
doi: 10.3390/genes10100825
pmc: PMC6826738
pii:
doi:
Substances chimiques
ARMS2 protein, human
0
HMCN1 protein, human
0
Immunoglobulins
0
Intracellular Signaling Peptides and Proteins
0
Membrane Proteins
0
PLEKHA1 protein, human
0
Proteins
0
Complement Factor H
80295-65-4
Complement Factor I
EC 3.4.21.45
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.
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