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Duane retraction syndrome
Research Genetic test
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offered by
Engle Laboratory
GTR Test Accession: Help GTR000326440.4
INHERITED DISEASEOPHTHALMOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2024-05-10
View version history
Last annual review date for the lab: 2024-05-16 LinkOut
At a Glance
Conditions (3): Help
Duane retraction syndrome; Duane retraction syndrome 2; Duane syndrome type 1
Chromosomal regions/ Mitochondria (2): Help
Chromosome 8; Human genome
Genes (1): Help
CHN1 (2q31.1)
Study description: Help
Laboratory is enrolling for genetic research studies to identify and …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals diagnosed with the condition and close biological relatives are …
Methods (2): Help
Molecular Genetics - Linkage analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Study Description
Name: Help
Duane retraction syndrome
Study short name: Help
DRS
Protocol number: Help
05-03-036R
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Laboratory is enrolling for genetic research studies to identify and characterize novel genes associated with the condition. Participation in the research study is available at no charge and enrollment (involves screening, consenting and sampling) can be arranged remotely without travel to Boston.
View citations (4)
  • Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008;321(5890):839-43. doi:10.1126/science.1156121. Epub 2008 Jul 24. PMID: 18653847.
  • CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Miyake N, et al. Am J Med Genet A. 2010;152A(1):215-7. doi:10.1002/ajmg.a.33168. PMID: 20034095.
  • Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Chan WM, et al. Arch Ophthalmol. 2011;129(5):649-52. doi:10.1001/archophthalmol.2011.84. PMID: 21555619.
  • Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011;52(9):6321-8. doi:10.1167/iovs.11-7950. Epub 2011 Aug 11. PMID: 21715346.
Study type: Help
Not applicable
Offered by: Help
Engle Laboratory
Person responsible for the study: Help
Elizabeth Engle, MD, ABPN, FAAN, Lab Director
Study contact: Help
Elizabeth Engle, MD, ABPN, FAAN, Lab Director
Research contact policy: Help
Contacts by phone or email from patients, families, healthcare providers and researchers are welcome.
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals diagnosed with the condition and close biological relatives are invited to enroll. We must enroll at least one person with the diagnosis to informatively study the individual/ family. Enrollment of the individual with the diagnosis and both biological parents is optimal and encouraged, but not required for participation.
Recruiting sites: Help
Boston Children's Hospital
Consent form: Help
Not provided
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 2
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Linkage analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Technical Information
Test Procedure: Help
For individuals opting to receive research results, findings must be confirmed on a new sample in a diagnostic, CLIA authorized laboratory.
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Test Confirmation: Help
For individuals opting to receive research results, findings must be confirmed on a new sample in a diagnostic, CLIA authorized laboratory.
Additional Information

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