Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder
Abstract The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revea...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-03-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.50992 |
| _version_ | 1831526196913897472 |
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| author | Theresa Brunet Milena Radivojkov‐Blagojevic Peter Lichtner Verena Kraus Thomas Meitinger Matias Wagner |
| author_facet | Theresa Brunet Milena Radivojkov‐Blagojevic Peter Lichtner Verena Kraus Thomas Meitinger Matias Wagner |
| author_sort | Theresa Brunet |
| collection | DOAJ |
| description | Abstract The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embryonic death and impaired neurogenesis underscore the importance of RBL2 in brain development. Exome sequencing in two siblings with severe intellectual disability, stereotypies and dysmorphic features identified biallelic loss‐of‐function variants c.556C>T, p.(Arg186Ter) and a deletion of exon 13–17 in RBL2 (NM_005611.3), establishing RBL2 as a candidate gene for an autosomal recessive neurodevelopmental disorder. |
| first_indexed | 2024-12-16T16:05:24Z |
| format | Article |
| id | doaj.art-64cc8293d56e4b1f9bbb25ba217adf2a |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-12-16T16:05:24Z |
| publishDate | 2020-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-64cc8293d56e4b1f9bbb25ba217adf2a2022-12-21T22:25:22ZengWileyAnnals of Clinical and Translational Neurology2328-95032020-03-017339039610.1002/acn3.50992Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorderTheresa Brunet0Milena Radivojkov‐Blagojevic1Peter Lichtner2Verena Kraus3Thomas Meitinger4Matias Wagner5Institute of Human Genetics, Faculty of Medicine Technical University Munich Munich GermanyInstitute of Human Genetics Helmholtz Zentrum München Neuherberg GermanyInstitute of Human Genetics Helmholtz Zentrum München Neuherberg GermanyDepartment of Pediatrics Klinik für Kinder‐ und JugendmedizinMünchen Klinik Schwabing und HarlachingKlinikum Rechts der Isar der Technischen Universität Munich Munich GermanyInstitute of Human Genetics, Faculty of Medicine Technical University Munich Munich GermanyInstitute of Human Genetics, Faculty of Medicine Technical University Munich Munich GermanyAbstract The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embryonic death and impaired neurogenesis underscore the importance of RBL2 in brain development. Exome sequencing in two siblings with severe intellectual disability, stereotypies and dysmorphic features identified biallelic loss‐of‐function variants c.556C>T, p.(Arg186Ter) and a deletion of exon 13–17 in RBL2 (NM_005611.3), establishing RBL2 as a candidate gene for an autosomal recessive neurodevelopmental disorder.https://doi.org/10.1002/acn3.50992 |
| spellingShingle | Theresa Brunet Milena Radivojkov‐Blagojevic Peter Lichtner Verena Kraus Thomas Meitinger Matias Wagner Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder Annals of Clinical and Translational Neurology |
| title | Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder |
| title_full | Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder |
| title_fullStr | Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder |
| title_full_unstemmed | Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder |
| title_short | Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder |
| title_sort | biallelic loss of function variants in rbl2 in siblings with a neurodevelopmental disorder |
| url | https://doi.org/10.1002/acn3.50992 |
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