Cargando…

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta

OBJECTIVE: Osteogenesis imperfecta (OI) is a rare genetic disorder. Clinical severity is heterogeneous. The purpose of this study was to investigate the genetic characteristics of a fetus with OI by whole exome sequencing (WES) and identify the cause of the disease. METHODS: In this study, a fetus w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mai, Qiuyan, Han, Ruining, Chen, Yinlong, Shen, Ke, Wang, Shimin, Zheng, Qingliang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653333/ https://www.ncbi.nlm.nih.gov/pubmed/38027129 http://dx.doi.org/10.3389/fendo.2023.1267252

Ejemplares similares

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
por: Mei, Yazhao, et al.
Publicado: (2022)

Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome
por: Wang, Dongdong, et al.
Publicado: (2019)

Exploration of the skeletal phenotype of the Col1a1 (+/Mov13) mouse model for haploinsufficient osteogenesis imperfecta type 1
por: Claeys, Lauria, et al.
Publicado: (2023)

Management of Osteogenesis Imperfecta
por: Ralston, Stuart H., et al.
Publicado: (2020)

A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II
por: Jacinto, Joana G. P., et al.
Publicado: (2021)

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
por: Zhytnik, Lidiia, et al.
Publicado: (2019)

COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
por: Dirani, Michella, et al.
Publicado: (2022)

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
por: Maasalu, Katre, et al.
Publicado: (2015)

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta
por: Yamada, Chieko, et al.
Publicado: (2022)

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
por: Ho Duy, Binh, et al.
Publicado: (2016)

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
por: Tongkobpetch, Siraprapa, et al.
Publicado: (2017)

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
por: Gupta, Nidhi, et al.
Publicado: (2021)

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
por: Zhytnik, Lidiia, et al.
Publicado: (2017)

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes
por: Paduano, Francesco, et al.
Publicado: (2023)

Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta
por: Jung, Hyerin, et al.
Publicado: (2021)

De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta
por: Zhytnik, Lidiia, et al.
Publicado: (2019)

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta
por: Yang, Kai, et al.
Publicado: (2022)

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss
por: Pan, Ti-Ti, et al.
Publicado: (2023)

Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta
por: Zhao, Dichen, et al.
Publicado: (2022)

Plethora of Traumatic Lesions of Bilateral Knee Extensor Mechanism in Osteogenesis Imperfecta
por: Kloen, Peter, et al.
Publicado: (2021)

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects
por: Yang, Lin, et al.
Publicado: (2022)

Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
por: Lin, Zejia, et al.
Publicado: (2019)

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta
por: Zhang, Hao, et al.
Publicado: (2017)

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
por: Cruz-Centeno, Nelimar, et al.
Publicado: (2022)

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
por: Lim, Pei Jin, et al.
Publicado: (2023)

SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
por: Choksi, Ishani, et al.
Publicado: (2020)

The role of osteocalcin in regulation of glycolipid metabolism and muscle function in children with osteogenesis imperfecta
por: Zheng, Wen-bin, et al.
Publicado: (2022)

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report
por: Chen, Yixiao, et al.
Publicado: (2023)

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study
por: Andersson, Kristofer, et al.
Publicado: (2017)

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family
por: Liu, Wei, et al.
Publicado: (2007)

A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
por: Seto, Toshiyuki, et al.
Publicado: (2017)

Macular neovascularisation in a patient with osteogenesis imperfecta exhibiting a novel COL1A1 mutation
por: Sato, Yoshiki, et al.
Publicado: (2022)

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
por: Han, Yaxin, et al.
Publicado: (2020)

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
por: Andersson, Kristofer, et al.
Publicado: (2020)

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2
por: Peláez Chomba, Melissa Sindy, et al.
Publicado: (2023)

Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review
por: Cao, Yang-Jia, et al.
Publicado: (2019)

Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study
por: Storoni, Silvia, et al.
Publicado: (2022)

Case Report: Hyperplastic Callus of the Femur Mimicking Osteosarcoma in Osteogenesis Imperfecta Type V
por: Deng, Ying, et al.
Publicado: (2021)

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
por: Aftab, S A S, et al.
Publicado: (2013)

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
por: Takagi, Masaki, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_n6fmnra4vtk5un1r94kiaihqgh