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Genetic and Functional Analysis of Craniometaphyseal Dysplasia
Research Genetic test
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offered by
Center for Regenerative Medicine and Skeletal Development
View lab's test page
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GTR Test Accession: Help GTR000192576.8
INHERITED DISEASEMUSCULOSKELETAL
Last updated in GTR: 2022-11-01
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Last annual review date for the lab: 2022-11-01 Past due LinkOut
At a Glance
Conditions (1): Help
Craniometaphyseal dysplasia, autosomal recessive
Genes (1): Help
GJA1 (6q22.31)
Study description: Help
CMD can be inherited in an autosomal dominant or recessive …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with clinically diagnosed CMD
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Genetic and Functional Analysis of Craniometaphyseal Dysplasia
Study short name: Help
CMD
ClinicalTrials.gov identifier: Help
NCT01630460
Protocol number: Help
03-008
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from … View more
Study aims and hypotheses: Help
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Study type: Help
Observational study
Offered by: Help
Center for Regenerative Medicine and Skeletal Development
Person responsible for the study: Help
Ernst Reichenberger, PhD, Lab Director
Study contact: Help
Ernst Reichenberger, PhD, Lab Director
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with clinically diagnosed CMD
Recruiting sites: Help
Enrollment by phone/email or at UCHC
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Test Procedure: Help
Sanger sequencing of relevant exons
View citations (1)
  • Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013;8(8):e73576. doi:10.1371/journal.pone.0073576. Epub 2013 Aug 12. PMID: 23951358.
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Additional Information

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