Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4-Reference-Cited by-同舟云学术

Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4

Published:2022-03-30 Issue:9 Volume:44 Page:1061-1070
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

Liu Mingjie,Wan Linlin,Wang Chunrong,Yuan Hongyu,Peng Yun,Wan Na,Tang Zhichao,Yuan Xinrong,Chen Daji,Long Zhe,Shi Yuting,Qiu Rong,Tang Beisha,Jiang Hong,Chen Zhao^ORCID

Funder

National Key Research and Development Program of China

National Natural Science Foundation of China

Innovation Research Group Project of Natural Science Foundation of Hunan Provinc

Science and Technology Innovation Group of Hunan Provinc

Scientific Research Foundation of Health Commission of Hunan Provinc

Key Research and Development Program of Hunan Provinc

Innovative Research and Development Program of Development and Reform Commission of Hunan Provinc

Natural Science Foundation of Hunan Provinc

Project Program of National Clinical Research Center for Geriatric Disorders

Youth Foundation of Xiangya Hospita

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s13258-022-01231-2.pdf

Reference51 articles.

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2. Bögershausen N, Wollnik B (2018) Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. Front Mol Neurosci 11:252. https://doi.org/10.3389/fnmol.2018.00252

3. Bramswig NC, Caluseriu O, Lüdecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM et al (2017) Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. Hum Genet 136:297–305. https://doi.org/10.1007/s00439-017-1757-z

4. Cai XZ, Li Y, Xia L, Peng Y, He CF, Jiang L, Feng Y, Xia K, Liu XZ, Mei LY et al (2017) Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. J Hum Genet 62:317–320. https://doi.org/10.1038/jhg.2016.102

5. Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F, Brunetti-Pierri N (2019) Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Mol Genet Genomic Med 7:e682. https://doi.org/10.1002/mgg3.682

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1. Coffin-Siris Syndrome: Genotype-Phenotype Clustering and Novel Variants;Laboratory Medicine Online;2023-04-01