Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder

Siddharth Srivastava; Erica L. Macke; Lindsay C. Swanson; David Coulter; Eric W. Klee; Sureni V. Mullegama; Yili Xie; Brendan C. Lanpher; Emma C. Bedoukian; Cara M. Skraban; Laurent Villard; Mathieu Milh; Mary L.O. Leppert; Julie S. Cohen

doi:10.3390/brainsci11070931

Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder

Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L.O. Leppert, Julie S. Cohen

Research output: Contribution to journal › Article › peer-review

Abstract

In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.

Original language	English (US)
Article number	931
Journal	Brain Sciences
Volume	11
Issue number	7
DOIs	https://doi.org/10.3390/brainsci11070931
State	Published - Jul 2021

Keywords

Autism
Intellectual disability
Neurodevelopmental disorder
WASF1

ASJC Scopus subject areas

General Neuroscience

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10.3390/brainsci11070931

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Srivastava, S., Macke, E. L., Swanson, L. C., Coulter, D., Klee, E. W., Mullegama, S. V., Xie, Y., Lanpher, B. C., Bedoukian, E. C., Skraban, C. M., Villard, L., Milh, M., Leppert, M. L. O., & Cohen, J. S. (2021). Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder. Brain Sciences, 11(7), Article 931. https://doi.org/10.3390/brainsci11070931

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title = "Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder",

abstract = "In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.",

keywords = "Autism, Intellectual disability, Neurodevelopmental disorder, WASF1",

author = "Siddharth Srivastava and Macke, {Erica L.} and Swanson, {Lindsay C.} and David Coulter and Klee, {Eric W.} and Mullegama, {Sureni V.} and Yili Xie and Lanpher, {Brendan C.} and Bedoukian, {Emma C.} and Skraban, {Cara M.} and Laurent Villard and Mathieu Milh and Leppert, {Mary L.O.} and Cohen, {Julie S.}",

note = "Publisher Copyright: {\textcopyright} 2021 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2021",

month = jul,

doi = "10.3390/brainsci11070931",

language = "English (US)",

volume = "11",

journal = "Brain Sciences",

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AU - Srivastava, Siddharth

AU - Macke, Erica L.

AU - Swanson, Lindsay C.

AU - Coulter, David

AU - Klee, Eric W.

AU - Mullegama, Sureni V.

AU - Xie, Yili

AU - Lanpher, Brendan C.

AU - Bedoukian, Emma C.

AU - Skraban, Cara M.

AU - Villard, Laurent

AU - Milh, Mathieu

AU - Leppert, Mary L.O.

AU - Cohen, Julie S.

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N2 - In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.

AB - In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.

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Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder

Abstract

Keywords

ASJC Scopus subject areas

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