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Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
Ann. Clin. Transl. Neurol. 7, 390-396 (2020)
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.
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Scopus SNIP
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Times Cited
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3.660
1.255
4
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Expression; Death; P130; E2f
Language
english
Publication Year
2020
HGF-reported in Year
2020
ISSN (print) / ISBN
2328-9503
e-ISSN
2328-9503
Quellenangaben
Volume: 7,
Issue: 3,
Pages: 390-396
Publisher
Wiley
Publishing Place
Chichester [u.a.]
Reviewing status
Peer reviewed
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30205 - Bioengineering and Digital Health
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-001
G-503200-001
G-503200-001
WOS ID
WOS:000516660300001
Scopus ID
85080103902
PubMed ID
32105419
Erfassungsdatum
2020-03-25