Academic Journal
Lack of the human choline transporter‐like protein SLC44A2 causes hearing impairment and a rare red blood phenotype
| Title: | Lack of the human choline transporter‐like protein SLC44A2 causes hearing impairment and a rare red blood phenotype |
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| Authors: | Bérengère Koehl, Cédric Vrignaud, Mahmoud Mikdar, Thankam S Nair, Lucy Yang, Seyve Landry, Guy Laiguillon, Claudine Giroux‐Lathuile, Sophie Anselme‐Martin, Hanane El Kenz, Olivier Hermine, Narla Mohandas, Jean Pierre Cartron, Yves Colin, Olivier Detante, Raphaël Marlu, Caroline Le Van Kim, Thomas E Carey, Slim Azouzi, Thierry Peyrard |
| Source: | EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-14 (2023) |
| Publisher Information: | Springer Nature, 2023. |
| Publication Year: | 2023 |
| Collection: | LCC:Medicine (General) LCC:Genetics |
| Subject Terms: | blood group antigen, hearing impairment, red blood cells, SLC44A2, transfusion, Medicine (General), R5-920, Genetics, QH426-470 |
| More Details: | Abstract 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, SLC44A2null individuals showed no significant platelet aggregation changes and do not suffer from any apparent hematological disorders. Overall, our findings confirm the function of SLC44A2 in hearing preservation and provide new insights into the possible role of this protein in maintaining cerebrovascular homeostasis. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1757-4676 1757-4684 |
| Relation: | https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684 |
| DOI: | 10.15252/emmm.202216320 |
| Access URL: | https://doaj.org/article/f2d7a59490f64da5ad7587622cbb7e66 |
| Accession Number: | edsdoj.f2d7a59490f64da5ad7587622cbb7e66 |
| Database: | Directory of Open Access Journals |
| ISSN: | 17574676 17574684 |
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| DOI: | 10.15252/emmm.202216320 |
| Published in: | EMBO Molecular Medicine |
| Language: | English |