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Article ; Online: Intellectual disability syndrome associated with a homozygous founder variant in

Birnbaum, Rivka / Ezer, Shlomit / Lotan, Nava Shaul / Eilat, Avital / Sternlicht, Keren / Benyamini, Lilach / Reish, Orit / Falik-Zaccai, Tzipora / Ben-Gad, Gali / Rod, Raya / Segel, Reeval / Kim, Katherine / Burton, Barabra / Keegan, Catherine E / Wagner, Mallory / Henderson, Lindsay B / Mor, Nofar / Barel, Ortal / Hirsch, Yoel /
Meiner, Vardiella / Elpeleg, Orly / Harel, Tamar / Mor-Shakad, Hagar

Journal of medical genetics

2024  Volume 61, Issue 3, Page(s) 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
MeSH term(s) Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders
Language English
Publishing date 2024-02-21
Publishing country England
Document type 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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Zs.A 177: Show issues Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

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