Artikel ; Online: Intellectual disability syndrome associated with a homozygous founder variant in
2024 Band 61, Heft 3, Seite(n) 289–293
Abstract: Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to ... ...
| Abstract | Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented. Methods: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals. Results: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in Conclusions: An Ashkenazi Jewish homozygous founder variant in |
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| Mesh-Begriff(e) | Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders | |||||
| Sprache | Englisch | |||||
| Erscheinungsdatum | 2024-02-21 | |||||
| Erscheinungsland | England | |||||
| Dokumenttyp | Journal Article | |||||
| ZDB-ID | 220881-7 | |||||
| ISSN | 1468-6244 ; 0022-2593 | |||||
| ISSN (online) | 1468-6244 | |||||
| ISSN | 0022-2593 | |||||
| DOI | 10.1136/jmg-2023-109504 | |||||
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| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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