A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature

to related objects

Abstract: Introduction Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1/COL1A2 gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis. Case Description We report the case of a fetus with skeletal abnormalities and subcutaneous edema. Ultrasound imaging revealed suspected skeletal malformations, including hypoplastic long bones of all four limbs, poorly ossified calvarium, unrevealing nasal bones, and generalized subcutaneous edema. Whole-exome sequencing revealed a heterozygous mutation in COL1A1 (c.2174G > T/p.(G725V), NM_000088.3). According to the American College of Medical Genetics and Genomics guidelines, it was determined to be a pathogenic variant and identified as a de novo variant (PS2 + PP3_strong + PM2_supporting), which has not been reported in the HGMD, gnomAD, ClinVar, or other databases. This variation causes a glycine-to-valine substitution at position 725, located within the Gly-Xaa-Yaa repeat in the helical domain of the collagen molecule. Conclusion The COL1A1 mutation (c.2174G > T/p.(G725V), NM_000088.3) is a novel pathogenic variant of severe OI. Our study expanded the OI COL1A1 gene variation profiles in the Chinese population and provided a theoretical foundation for prenatal diagnosis, genetic counseling, and obstetric management.

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature ; volume:14 ; number:03 ; year:2024 ; pages:e215-e223
AJP reports ; 14, Heft 03 (2024), e215-e223

Contributor: Lu, Yurong
Tian, Yijia
Liu, Jinxiu
Wang, Yifan
Wang, Xietong

DOI: 10.1055/a-2388-3190

URN: urn:nbn:de:101:1-2411141115083.773473347160

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:36 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Lu, Yurong
Tian, Yijia
Liu, Jinxiu
Wang, Yifan
Wang, Xietong

Other Objects (12)

$Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills$

Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills

$From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2$

From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2

Surface defect, anomalies and b-extremization

Defect a-theorem and a-maximization

Hochschulschrift

Osteogenesis imperfecta

Fusion category symmetry. Part I. Anomaly in-flow and gapped phases

Non-perturbative defects in tensor models from melonic trees

Leveraging programmed cell death signature to predict clinical outcome and immunotherapy benefits in postoperative bladder cancer

Anomalous symmetries end at the boundary

Universal bounds on CFT Distance Conjecture

$Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills$

Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills

$From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2$

From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2

Surface defect, anomalies and b-extremization

Defect a-theorem and a-maximization

Hochschulschrift

Osteogenesis imperfecta

Fusion category symmetry. Part I. Anomaly in-flow and gapped phases

Non-perturbative defects in tensor models from melonic trees

Leveraging programmed cell death signature to predict clinical outcome and immunotherapy benefits in postoperative bladder cancer

Anomalous symmetries end at the boundary

Universal bounds on CFT Distance Conjecture

$Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills$

Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills

$From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2$

From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2

Surface defect, anomalies and b-extremization

Defect a-theorem and a-maximization

Hochschulschrift

Osteogenesis imperfecta

Fusion category symmetry. Part I. Anomaly in-flow and gapped phases

Non-perturbative defects in tensor models from melonic trees

Leveraging programmed cell death signature to predict clinical outcome and immunotherapy benefits in postoperative bladder cancer

Anomalous symmetries end at the boundary

Universal bounds on CFT Distance Conjecture

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills

From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2

Surface defect, anomalies and b-extremization

Defect a-theorem and a-maximization

Osteogenesis imperfecta

Osteogenesis imperfecta

Osteogenesis imperfecta

Fusion category symmetry. Part I. Anomaly in-flow and gapped phases

Non-perturbative defects in tensor models from melonic trees

Leveraging programmed cell death signature to predict clinical outcome and immunotherapy benefits in postoperative bladder cancer

Anomalous symmetries end at the boundary

Universal bounds on CFT Distance Conjecture

Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills

From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2

Surface defect, anomalies and b-extremization

Defect a-theorem and a-maximization

Osteogenesis imperfecta

Osteogenesis imperfecta

Osteogenesis imperfecta

Fusion category symmetry. Part I. Anomaly in-flow and gapped phases

Non-perturbative defects in tensor models from melonic trees

Leveraging programmed cell death signature to predict clinical outcome and immunotherapy benefits in postoperative bladder cancer

Anomalous symmetries end at the boundary

Universal bounds on CFT Distance Conjecture

Taming defects in N $$ \mathcalN} $$ = 4 super-Yang-Mills

From N $$ \mathcalN} $$ = 4 Super-Yang-Mills on ℝℙ4 to bosonic Yang-Mills on ℝℙ2

Surface defect, anomalies and b-extremization

Defect a-theorem and a-maximization

Osteogenesis imperfecta

Osteogenesis imperfecta

Osteogenesis imperfecta

Fusion category symmetry. Part I. Anomaly in-flow and gapped phases

Non-perturbative defects in tensor models from melonic trees

Leveraging programmed cell death signature to predict clinical outcome and immunotherapy benefits in postoperative bladder cancer

Anomalous symmetries end at the boundary

Universal bounds on CFT Distance Conjecture

Related objects

Reset password