2021
DOI: 10.1136/jmedgenet-2021-107871
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Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

Abstract: BackgroundVariants in HECW2 have recently been reported to cause a neurodevelopmental disorder with hypotonia, seizures and impaired language; however, only six variants have been reported and the clinical characteristics have only broadly been defined.MethodsMolecular and clinical data were collected from clinical and research cohorts. Massive parallel sequencing was performed and identified individuals with a HECW2-related neurodevelopmental disorder.ResultsWe identified 13 novel missense variants in HECW2 i… Show more

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Cited by 9 publications
(11 citation statements)
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“…Mice lacking p73 expression show severe neurodevelopmental abnormalities with hippocampal dysgenesis [ 81 ]. Recently, de novo mutations in the HECW2 gene have been identified in patients with neurodevelopmental diseases, including epilepsy, intellectual deficiency and macrocephaly [ 82 , 83 , 84 , 85 ].…”
Section: Nedd4 E3 Ligases In Neurodevelopmentmentioning
confidence: 99%
“…Mice lacking p73 expression show severe neurodevelopmental abnormalities with hippocampal dysgenesis [ 81 ]. Recently, de novo mutations in the HECW2 gene have been identified in patients with neurodevelopmental diseases, including epilepsy, intellectual deficiency and macrocephaly [ 82 , 83 , 84 , 85 ].…”
Section: Nedd4 E3 Ligases In Neurodevelopmentmentioning
confidence: 99%
“…Recently, de novo variants in HECW2 have been recognized as a cause of a neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; MIM# 617268) (Acharya et al, 2021; Berko et al, 2017; Halvardson et al, 2016; Heide et al, 2021; Kritioti et al, 2021; Lu et al, 2021; Nakamura et al, 2018; Peikes et al, 2021; Ullman et al, 2018; Yanagishita et al, 2021). They have also been associated to autism spectrum disorder (Iossifov et al, 2014; Krumm et al, 2015), developmental disorder (Deciphering Developmental Disorders Study 2015; Deciphering Developmental Disorders Study 2017), intellectual disability (Taşkıran et al, 2021), and epileptic encephalopathy (Euro et al, 2014; Hamdan et al, 2017).…”
Section: Figurementioning
confidence: 99%
“…Currently, 54 patients from 53 families with 32 missense variants in HECW2 have been published (Table 1). These variants showed an autosomal dominant pattern of inheritance, and most of them were de novo (Acharya et al, 2021; Berko et al, 2017; Deciphering Developmental Disorders Study 2015; Deciphering Developmental Disorders Study 2017; Euro et al, 2014; Halvardson et al, 2016; Hamdan et al, 2017; Heide et al, 2021; Iossifov et al, 2014; Kritioti et al, 2021; Krumm et al, 2015; Lu et al, 2021; Nakamura et al, 2018; Peikes et al, 2021; Taşkıran et al, 2021; Ullman et al, 2018; Yanagishita et al, 2021). Of these 32 variants, 18 are described as pathogenic and 7 as likely pathogenic, the rest being of uncertain significance.…”
Section: Figurementioning
confidence: 99%
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