Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders
SR McGee, S Rajamanickam, S Adhikari… - Human molecular …, 2023 - academic.oup.com
De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of
the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a …
the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a …
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) …
L Chen, PJ Jensik, JT Alaimo, M Walkiewicz… - Human …, 2017 - Wiley Online Library
Deformed epidermal autoregulatory factor‐1 (DEAF1), a transcription factor essential for
central nervous system and early embryonic development, has recently been implicated in a …
central nervous system and early embryonic development, has recently been implicated in a …
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype
T Andoni, S Ellard, J Kapadia… - Clinical Dysmorphology, 2020 - journals.lww.com
DEAF1 encodes deformed epidermal autoregulatory factor-1 homologue, a transcriptional
regulator which activates or represses a number of target genes involved in the early …
regulator which activates or represses a number of target genes involved in the early …
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
MJ Nabais Sá, PJ Jensik, SR McGee, MJ Parker… - Genetics in …, 2019 - nature.com
Purpose To investigate the effect of different DEAF1 variants on the phenotype of patients
with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro …
with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro …
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
AT Vulto-van Silfhout, S Rajamanickam… - The American Journal of …, 2014 - cell.com
Recently, we identified in two individuals with intellectual disability (ID) different de novo
mutations in DEAF1, which encodes a transcription factor with an important role in …
mutations in DEAF1, which encodes a transcription factor with an important role in …
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly
DEAF1 encodes a transcriptional binding factor and is a regulator of serotonin receptor 1A.
Its protein has a significant expression in the neurons of different brain regions and is …
Its protein has a significant expression in the neurons of different brain regions and is …
Sleep disturbances associated with DEAF1 pathogenic variants
P Guerreiro, M Moysés-Oliveira… - Journal of Clinical …, 2024 - jcsm.aasm.org
Neurodevelopmental disorders and sleep disturbances share genetic risk factors. DEAF1
genetic variants are associated with rare syndromes in which sleep disturbances are …
genetic variants are associated with rare syndromes in which sleep disturbances are …
Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems.
S Waltl - Clinical Genetics, 2014 - search.ebscohost.com
Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral
problems Page 1 Clin Genet 2014: 86: 507–509 Printed in Singapore. All rights reserved © …
problems Page 1 Clin Genet 2014: 86: 507–509 Printed in Singapore. All rights reserved © …
De novo variants of DEAF1 cause intellectual disability in six Chinese patients
S Chen, X Deng, J Xiong, F He, L Yang, B Chen… - Clinica Chimica …, 2021 - Elsevier
Background It has been reported that de novo heterozygous variants of DEAF1 can cause
DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore …
DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore …
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy
A Rajab, M Schuelke, E Gill, A Zwirner… - Journal of medical …, 2015 - jmg.bmj.com
Background Various genetic defects cause autism associated with intellectual disability and
epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family …
epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family …