Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.
SLC44A2
blood group antigen
hearing impairment
red blood cells
transfusion
Journal
EMBO molecular medicine
ISSN: 1757-4684
Titre abrégé: EMBO Mol Med
Pays: England
ID NLM: 101487380
Informations de publication
Date de publication:
08 03 2023
08 03 2023
Historique:
revised:
06
01
2023
received:
17
05
2022
accepted:
10
01
2023
pubmed:
26
1
2023
medline:
11
3
2023
entrez:
25
1
2023
Statut:
ppublish
Résumé
Blood phenotypes are defined by the presence or absence of specific blood group antigens at the red blood cell (RBC) surface, due to genetic polymorphisms among individuals. The recent development of genomic and proteomic approaches enabled the characterization of several enigmatic antigens. The choline transporter-like protein CTL2 encoded by the SLC44A2 gene plays an important role in platelet aggregation and neutrophil activation. By investigating alloantibodies to a high-prevalence antigen of unknown specificity, found in patients with a rare blood type, we showed that SLC44A2 is also expressed in RBCs and carries a new blood group system. Furthermore, we identified three siblings homozygous for a large deletion in SLC44A2, resulting in complete SLC44A2 deficiency. Interestingly, the first-ever reported SLC44A2-deficient individuals suffer from progressive hearing impairment, recurrent arterial aneurysms, and epilepsy. Furthermore, SLC44A2
Identifiants
pubmed: 36695047
doi: 10.15252/emmm.202216320
pmc: PMC9994479
doi:
Substances chimiques
choline transporter
0
Membrane Transport Proteins
0
SLC44A2 protein, human
0
Membrane Glycoproteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e16320Informations de copyright
© 2023 The Authors. Published under the terms of the CC BY 4.0 license.
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