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©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2023; 11(19): 4655-4663
Published online Jul 6, 2023. doi: 10.12998/wjcc.v11.i19.4655
Published online Jul 6, 2023. doi: 10.12998/wjcc.v11.i19.4655
CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
Jie Li, Li-Na Chen, Hai-Lan He, Department of Paediatrics, Sichuan Academy of Medical Sciences, Sichuan Provincial People’s Hospital, Chengdu 610000, Sichuan Province, China
Author contributions: Li J and Chen LN wrote the study plan, requested ethical approval, and contacted the family; Chen LN examined the patients; Li J wrote the first draft; Li J, Chen LN and He HL performed the corrections on the different versions of the draft, revised the literature, and updated the manuscript; All the authors approved the final version of the manuscript.
Supported by the China Foundation for International Medical Exchange , Pediatric Endocrinology Young and Middle-Aged Doctors’ Growth Research Fund, No. Z-2019-41-2101-01.
Informed consent statement: We obtained written informed consent from the patients or the patients’ parents to publish patients’ clinical and molecular information as well as facial photographs.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read CARE Checklist (2016), and the manuscript was prepared and revised according to CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Na Chen, MD, Doctor, Department of Paediatrics, Sichuan Academy of Medical Sciences, Sichuan Provincial People’s Hospital, No. 32, West Section 2, Yihuan Road, Qingyang District, Chengdu 610000, Sichuan Province, China. linachen9755@163.com
Received: February 1, 2023
Peer-review started: February 1, 2023
First decision: April 19, 2023
Revised: May 5, 2023
Accepted: May 31, 2023
Article in press: May 31, 2023
Published online: July 6, 2023
Processing time: 148 Days and 23.9 Hours
Peer-review started: February 1, 2023
First decision: April 19, 2023
Revised: May 5, 2023
Accepted: May 31, 2023
Article in press: May 31, 2023
Published online: July 6, 2023
Processing time: 148 Days and 23.9 Hours
Core Tip
Core Tip: This is the fourth reported case of familial Silver–Russell syndrome (SRS) caused by a new missense mutation in the PCNA-binding domain of CDKN1C.The SRS pedigree, which was due to missense mutation affecting the amino acid position, 279, of the PCNA-binding domain of the CDKN1C gene, resulting in the amino acid substitution p.Arg279His (c.836G>A). Five affected family members also showed SRS phenotypes (small for gestational age, proportionately severe short stature, certain facial features (protruding forehead, triangular face, micrognathia), but without limb asymmetry or adrenal insufficiency. Initial efficacy and safety of growth hormone were observed in the proband treated with growth hormone.