<i>COL1A2</i> p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Wang, Mingyuan; Guo, Yi; Rong, Pengfei; Xu, Hongbo; Gong, Ling; Deng, Hao; Yuan, Lamei

doi:10.1002/mgg3.619

Cited by 4 publications

(3 citation statements)

References 38 publications

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“…SOAPsnp (v1.05), Genome Analysis Toolkit HaplotypeCaller, Platypus, and SAMtools were applied for calling single nucleotide polymorphisms (SNPs) and insertions/deletions (indels), after duplicate reads, primarily produced by polymerase chain reaction (PCR) amplification, were deleted. Variant Effect Predictor was used to annotate the identified variants (Huang et al, ; Wang et al, ). Common variants or nonpathogenic variants were filtered out using the human genetic variation databases, including the Single Nucleotide Polymorphism database (dbSNP build 138), 1000 Genomes Project, and HapMap project.…”

Section: Methodsmentioning

confidence: 99%

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Huang

Guo

et al. 2019

Molec Gen & Gen Med

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Background Ellis‐van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five‐generation consanguineous Han‐Chinese pedigree. Methods A five‐generation, 12‐member Han‐Chinese pedigree was enrolled in this study. Exome sequencing was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members and 200 unrelated ethnicity‐matched controls. Results A novel homozygous variant, c.2014C>T, p.(Q672*), in the EvC ciliary complex subunit 1 gene (EVC), was detected in the patient, which was cosegregated with the disease in the family and absent in the controls. Conclusion The identified novel homozygous EVC variant, c.2014C>T, p.(Q672*), was responsible for EVC in this Han‐Chinese pedigree. The findings in this study extend the EVC mutation spectrum and may provide new insights into EVC causation and diagnosis with implications for genetic counseling and clinical management.

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Section: Methodsmentioning

confidence: 99%

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Huang

Guo

et al. 2019

Molec Gen & Gen Med

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“…WES of the proband was performed by BGI Genomics, BGI-Shenzhen (Shenzhen, China), as previously described (22,23). The quantified gDNA sample was randomly sheared into fragments by Covaris E220 (Covaris, Inc.) and achieved library fragments between 150 bp and 250 bp.…”

Section: Whole Exome Sequencing (Wes)mentioning

confidence: 99%

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family

Huang¹,

Yuan²,

Cao³

et al. 2021

Ann Transl Med

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Background: Macular corneal dystrophy (MCD), a rare autosomal recessive disorder, is caused by pathogenic mutations in the carbohydrate sulfotransferase 6 gene (CHST6) and is characterized by bilateral progressive stromal clouding and vision loss. Corneal transplantation is often necessary. This study aimed to identify disease-causing mutations in a Han-Chinese MCD patient.Methods: A 37-year-old female diagnosed with MCD was recruited. The clinical materials were observed and described, and peripheral blood sample was extracted. Whole exome sequencing (WES) and Sanger sequencing were used to reveal genetic defects. The pathogenicity of identified mutations was assessed using in silico analysis. Results:The patient had typical features of MCD, including decreased vision, multiple irregular graywhite corneal opacities, and corneal thinning. A novel nonsense mutation c.544C>T (p.Gln182Ter) and a validated missense mutation c.631C>G (p.Arg211Gly) were identified in the CHST6 gene coding region, both classified as "pathogenic" following the American College of Medical Genetics and Genomics standards and guidelines.Conclusions: This study reports a Han-Chinese MCD patient with a novel nonsense mutation c.544C>T (p.Gln182Ter) and a recurrent missense mutation c.631C>G (p.Arg211Gly), which expand the spectrum of genetic mutations. The results of this study extend genotype-phenotype correlations between the CHST6 gene mutations and MCD clinical findings, contributing to a more accurate diagnosis and the development of potential gene-targeted MCD therapies.

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“…OI can affect the life quality of patients with the disease because the main causative gene, type I collagen ( COL1A1 ), encodes a major structural protein of dentine, bone, and other fibrous tissues (Wang et al, 2019 ; Li et al, 2020 ). Therefore, a mutation in type I collagen gene COL1A1 gene might alter the collagen fibrils, which may affect the formation and stability of bone and dentine minerals and, finally, result in a variety of abnormal phenotypes (Marom et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

Zeng

Pan

et al. 2021

Front. Genet.

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Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the COL1A1 or COL1A2 genes, which encode type I procollagen.Case Report: A missense mutation (c.1463G > C) in exon 22 of the COL1A1 gene was found using whole-exome sequencing. However, the cases reported herein only exhibited a clinical DGI-I phenotype. There were no cases of bone disease or any other common abnormal symptom caused by a COL1A1 mutation. In addition, the ultrastructural analysis of the tooth affected with non-syndromic DGI-I showed that the abnormal dentine was accompanied by the disruption of odontoblast polarization, a reduced number of odontoblasts, a reduction in hardness and elasticity, and the loss of dentinal tubules, suggesting a severe developmental disorder. We also investigated the odontoblast differentiation ability using dental pulp stem cells (DPSCs) that were isolated from a patient with DGI-I and cultured. Stem cells isolated from patients with DGI-I are important to elucidate their pathogenesis and underlying mechanisms to develop regenerative therapies.Conclusion: This study can provide new insights into the phenotype-genotype association in collagen-associated diseases and improve the clinical diagnosis of OI/DGI-I.

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COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Cited by 4 publications

References 38 publications

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family

Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

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