A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia

Fu Chieh Chu, Ling Yien Hii, Tai-Ho Hung, Liang Ming Lo, T'sang T.ang Hsieh, Steven W. Shaw*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

4 Scopus citations


Objective: Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. Case report: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction. Conclusion: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.

Original languageEnglish
Pages (from-to)359-362
Number of pages4
JournalTaiwanese Journal of Obstetrics and Gynecology
Issue number2
StatePublished - 03 2021
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2021


  • COL2A1 gene
  • Short extremities
  • Skeletal dysplasia


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