Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients-Reference-Cited by-同舟云学术

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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Published:2020-06-16 Issue:1 Volume:12 Page:
ISSN:1868-7075
Container-title:Clinical Epigenetics
language:en
Short-container-title:Clin Epigenet

Author:

Inoue Takanobu,Nakamura Akie,Iwahashi-Odano Megumi,Tanase-Nakao Kanako,Matsubara Keiko,Nishioka Junko,Maruo Yoshihiro,Hasegawa Yukihiro,Suzumura Hiroshi,Sato Seiji,Kobayashi Yoshiyuki,Murakami Nobuyuki,Nakabayashi Kazuhiko,Yamazawa Kazuki,Fuke Tomoko,Narumi Satoshi,Oka Akira,Ogata Tsutomu,Fukami Maki,Kagami Masayo^ORCID

Funder

National Center for Child Health and Development

Japan Agency for Medical Research and Development

Foundation for Growth Science

Takeda Science Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Genetics,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13148-020-00865-x.pdf

Reference42 articles.

1. Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105–24.

2. Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, et al. Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One. 2013;8:e60105.

3. Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, et al. Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. Genet Med. 2018;20:250–8.

4. De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, et al. A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. J Hum Genet. 2015;60:287–93.

5. Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, et al. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics. 2017;9:52.

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1. Approach to the Patient With Suspected Silver-Russell Syndrome;The Journal of Clinical Endocrinology & Metabolism;2024-06-18

2. Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review;Clinical Epigenetics;2024-06-05

3. Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review;Frontiers in Genetics;2024-05-17

4. Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant;Frontiers in Endocrinology;2024-03-26

5. Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome;JCI Insight;2024-02-20

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