Identification of genetic variants in two families with Keratoconus.
ALDH3A1
Genetic variant
Keratoconus
TSC1
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
21 11 2023
21 11 2023
Historique:
received:
11
04
2023
accepted:
12
11
2023
medline:
23
11
2023
pubmed:
22
11
2023
entrez:
22
11
2023
Statut:
epublish
Résumé
This research investigated the genetic characteristic of two Chinese families with keratoconus (KC). For all people in the two families with KC, their history, clinical data, and peripheral blood were collected. One hundred healthy participants without KC and 112 sporadic KC patients were recruited as the controls. Whole exome sequencing of the genomic DNA and polymerase chain reaction were conducted for all the controls and family members to verify the variants. Functional analyses of the variants was performed using the software programs. A missense tuberous sclerosis 1 (TSC1) variant g.135797247A > G (c.622A > G, p.Ser208Gly) was detected in family 1. A single nucleotide polymorphism (SNP) rs761232139 (p.Gly235Arg) in aldehyde dehydrogenase 3 family member A1 (ALDH3A1) gene was detected in family 2. The variant c.622A > G in TSC1 and the SNP rs761232139 in ALDH3A1 were predicted as being probably damaging. Novel variant c.622A > G in TSC1 and SNP rs761232139 in ALDH3A1 have been detected in families with KC. These two findings may play a role in the pathogenesis of KC.
Sections du résumé
BACKGROUND
This research investigated the genetic characteristic of two Chinese families with keratoconus (KC).
METHODS
For all people in the two families with KC, their history, clinical data, and peripheral blood were collected. One hundred healthy participants without KC and 112 sporadic KC patients were recruited as the controls. Whole exome sequencing of the genomic DNA and polymerase chain reaction were conducted for all the controls and family members to verify the variants. Functional analyses of the variants was performed using the software programs.
RESULTS
A missense tuberous sclerosis 1 (TSC1) variant g.135797247A > G (c.622A > G, p.Ser208Gly) was detected in family 1. A single nucleotide polymorphism (SNP) rs761232139 (p.Gly235Arg) in aldehyde dehydrogenase 3 family member A1 (ALDH3A1) gene was detected in family 2. The variant c.622A > G in TSC1 and the SNP rs761232139 in ALDH3A1 were predicted as being probably damaging.
CONCLUSIONS
Novel variant c.622A > G in TSC1 and SNP rs761232139 in ALDH3A1 have been detected in families with KC. These two findings may play a role in the pathogenesis of KC.
Identifiants
pubmed: 37990318
doi: 10.1186/s12920-023-01738-x
pii: 10.1186/s12920-023-01738-x
pmc: PMC10664684
doi:
Substances chimiques
DNA
9007-49-2
TSC1 protein, human
0
Tuberous Sclerosis Complex 1 Protein
0
ALDH3A1 protein, human
EC 1.2.1.3
Aldehyde Dehydrogenase
EC 1.2.1.3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
299Informations de copyright
© 2023. The Author(s).
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