Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review-Reference-Cited by-同舟云学术

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Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review

Published:2018 Issue:5 Volume:9 Page:259-265
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Sandestig Anna,Green Anna,Jonasson Jon,Vogt Hartmut,Wahlström Johan,Pepler Alexander,Ellnebo Katarina,Biskup Saskia,Stefanova Margarita

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Conboy E, Vairo F, Waggoner D, Ober C, Das S, et al: Pathogenic variant in ACTB, p.Arg183Trp, causes juvenile-onset dystonia, hearing loss, and developmental delay without midline malformation. Case Rep Genet 2017:9184265 (2017).

2. Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, et al. ACTB loss-of-function mutations result in a pleiotropic developmental disorder. Am J Hum Genet 101:1021-1033 (2017).

3. Der Kaloustian VM, Pelletier M, Costa T, Blackston DR, Oudjhane K: A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Clin Dysmorphol 10:87-93 (2001).

4. Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, et al: Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. Eur J Hum Genet 22:179-183 (2014).

5. Eker HK, Derinkuyu BE, Ünal S, Masliah-Planchon J, Drunat S, Verloes A: Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. Eur J Med Genet 57:32-36 (2014).

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1. Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature;Journal of Clinical Medicine;2024-03-05

2. β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination;The Journal of Immunology;2024-02-05

3. A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia;Clinical Dysmorphology;2024-01-05

4. Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders;Nature Genetics;2023-07-27

5. Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome;Frontiers in Genetics;2022-03-24

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