When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing
Abstract Mutations in the XRCC4 gene have been recently identified through whole‐exome sequencing (WES). While the overall clinical presentation of the patients (severe short stature, microcephaly, gonadal failure) generally conforms with what is expected for the defect of a critical non‐homologous...
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| Format: | Article |
| Language: | English |
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Springer Nature
2015-05-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201505307 |
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| _version_ | 1849331786108108800 |
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| author | Jean‐Pierre de Villartay |
| author_facet | Jean‐Pierre de Villartay |
| author_sort | Jean‐Pierre de Villartay |
| collection | DOAJ |
| description | Abstract Mutations in the XRCC4 gene have been recently identified through whole‐exome sequencing (WES). While the overall clinical presentation of the patients (severe short stature, microcephaly, gonadal failure) generally conforms with what is expected for the defect of a critical non‐homologous end‐joining (NHEJ) DNA repair factor, the absence of consequence on the proper development of the immune system is rather surprising, given the role of NHEJ in V(D)J recombination. Several hypotheses can be envisioned to explain this discrepancy. Overall, these findings highlight the power of WES in identifying new molecular causes for human diseases while providing with new exciting scientific question to address. |
| format | Article |
| id | doaj-art-fdb39f5a94e8484b9cdcbbdaf09de7c1 |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2015-05-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-fdb39f5a94e8484b9cdcbbdaf09de7c12025-08-20T03:46:24ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842015-05-017786286410.15252/emmm.201505307When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencingJean‐Pierre de Villartay0INSERM UMR1163, Laboratory of Genome Dynamics in the Immune System (DGSI)Abstract Mutations in the XRCC4 gene have been recently identified through whole‐exome sequencing (WES). While the overall clinical presentation of the patients (severe short stature, microcephaly, gonadal failure) generally conforms with what is expected for the defect of a critical non‐homologous end‐joining (NHEJ) DNA repair factor, the absence of consequence on the proper development of the immune system is rather surprising, given the role of NHEJ in V(D)J recombination. Several hypotheses can be envisioned to explain this discrepancy. Overall, these findings highlight the power of WES in identifying new molecular causes for human diseases while providing with new exciting scientific question to address.https://doi.org/10.15252/emmm.201505307 |
| spellingShingle | Jean‐Pierre de Villartay When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing EMBO Molecular Medicine |
| title | When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing |
| title_full | When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing |
| title_fullStr | When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing |
| title_full_unstemmed | When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing |
| title_short | When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole‐exome sequencing |
| title_sort | when natural mutants do not fit our expectations the intriguing case of patients with xrcc4 mutations revealed by whole exome sequencing |
| url | https://doi.org/10.15252/emmm.201505307 |
| work_keys_str_mv | AT jeanpierredevillartay whennaturalmutantsdonotfitourexpectationstheintriguingcaseofpatientswithxrcc4mutationsrevealedbywholeexomesequencing |