Retrospective Study
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 6, 2021; 9(7): 1600-1609
Published online Mar 6, 2021. doi: 10.12998/wjcc.v9.i7.1600
Study on pathogenic genes of dwarfism disease by next-generation sequencing
Lv-Lv Yang, Shi-Shan Liang
Lv-Lv Yang, Shi-Shan Liang, Department of Pediatrics, Quanzhou First Hospital, Quanzhou 362000, Fujian Province, China
Author contributions: Yang LL designed the study and performed the research; Liang SS analyzed the data; Yang LL wrote the paper and revised the manuscript for final submission.
Supported by Quanzhou Science and Technology Bureau, No. 2018Z072
Institutional review board statement: The study was reviewed and approved by the Quanzhou First Hospital Review Board.
Informed consent statement: All study participants or their legal guardian provided written informed consent prior to study enrollment.
Conflict-of-interest statement: We declare that we have no financial or personal relationships with other individuals or organizations that can inappropriately influence our work and that there is no professional or other personal interest of any nature in any product, service and/or company that could be construed as influencing the position presented in or the review of the manuscript.
Data sharing statement: No additional data are available.
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:
Corresponding author: Lv-Lv Yang, MD, Doctor, Department of Pediatrics, Quanzhou First Hospital, No. 248-252 East Street, Licheng District, Quanzhou 362000, Fujian Province, China.
Received: November 23, 2020
Peer-review started: November 23, 2020
First decision: December 8, 2020
Revised: December 10, 2020
Accepted: December 24, 2020
Article in press: December 24, 2020
Published online: March 6, 2021

There are many factors that lead to dwarfism, and the mechanism has not yet been elucidated. Next-generation sequencing may identify candidate-related gene mutations, which may clarify the molecular cause.


To analyze genetic variation by using a constructed panel related to dwarfism by utilizing next-generation sequencing platform sequencing analysis to screen candidate-related gene mutations.


Physical and laboratory characteristics, including clinical examination, growth hormone drug challenge test, serum insulin-like growth factor-1 (IGF-1), IGF binding protein 3, other related tests, imaging examination, and chromosome karyotyping, were analyzed. Next-generation sequencing was performed to analyze pathogenicity variability.


In the 39 dwarfism patients, 10 had pathogenicity variability. Gene variation was found in the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes. Of the 10 patients with pathogenicity variability, the related physical characteristics included double breast development and growth hormone deficiency, enuresis and indirect inguinal hernia on the left, two finger distance of 70.2 cm, head circumference of 49.2 cm, ischium/lower body length of 1.8 cm, weak limb muscles, and partial growth hormone deficiency. After 6 mo of growth hormone therapy, the concentrations of IGF-1 and IGF binding protein 3 increased from 215.2 ± 170.3 to 285.0 ± 166.0 and 3.9 ± 1.4 to 4.2 ± 1.1, respectively.


OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes may be related to the incidence of dwarfism, and more research needs to be performed to elucidate the mechanism.

Keywords: Dwarfism, Next-generation sequencing, Pathogenicity variability, Growth hormone, Therapy, Mechanism

Core Tip: Genetic variation may relate to the incidence of dwarfism. After Solexa sequencing, the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes may be related to dwarfism and clarify the molecular cause.