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Anterior Segment Mesenchymal Dysgenesis
Research Genetic test
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offered by
Human Developmental Genetics Laboratory
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GTR Test Accession: Help GTR000242559.5
OPHTHALMOLOGYINHERITED DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-07-03
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Last annual review date for the lab: 2022-07-12 Past due LinkOut
At a Glance
Conditions (3): Help
Anterior segment dysgenesis 1; Axenfeld anomaly; Irido-corneo-trabecular dysgenesis
Genes (5): Help
CYP1B1 (2p22.2), FOXC1 (6p25.3), FOXE3 (1p33), PITX2 (4q25), PITX3 (10q24.32)
Study description: Help
Screening of genes known to be involved in eye development …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with eye conditions and their family members are eligible.
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Name: Help
Genetic Studies Of Human Developmental Disorders
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Screening of genes known to be involved in eye development will be performed by exome/genome and/or Sanger sequencing. If no mutation is found, data will be reviewed for novel gene identification and we will continue to screen samples for mutations in other genes characterized as research progresses. Referring providers will … View more
View citations (3)
  • Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci. 2011;52(3):1450-9. doi:10.1167/iovs.10-6060. Epub 2011 Mar 18. PMID: 20881290.
  • Genetics of anterior segment dysgenesis disorders. Reis LM, et al. Curr Opin Ophthalmol. 2011;22(5):314-24. doi:10.1097/ICU.0b013e328349412b. PMID: 21730847.
  • Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012;20(12):1224-33. doi:10.1038/ejhg.2012.80. Epub 2012 May 09. PMID: 22569110.
Study type: Help
Observational study
Offered by: Help
Human Developmental Genetics Laboratory
Person responsible for the study: Help
Elena Semina, PhD, Lab Director
Study contact: Help
Linda Reis, MS, CGC, Genetic Counselor
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.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with eye conditions and their family members are eligible.
Consent form: Help
Not provided
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Consumer resources:

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