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Congenital Fibrosis of Extraocular Muscles Type
Research Genetic test
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offered by
Engle Laboratory
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GTR Test Accession: Help GTR000322836.4
INHERITED DISEASEOPHTHALMOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2023-05-15
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Last annual review date for the lab: 2023-05-15 LinkOut
At a Glance
Conditions (9): Help
Congenital fibrosis of extraocular muscles; Congenital Fibrosis of the Extraocular Muscles 4; Congenital fibrosis of extraocular muscles type 1; ...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Genes (3): Help
KIF21A (12q12), PHOX2A (11q13.4), TUBB3 (16q24.3)
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
Congenital Fibrosis of Extraocular Muscles
Study short name: Help
CFEOM
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 (7)
  • Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nakano M, et al. Nat Genet. 2001;29(3):315-20. doi:10.1038/ng744. PMID: 11600883.
  • Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35(4):318-21. doi:10.1038/ng1261. Epub 2003 Nov 02. PMID: 14595441.
  • Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Yamada K, et al. Invest Ophthalmol Vis Sci. 2004;45(7):2218-23. doi:10.1167/iovs.03-1413. PMID: 15223798.
  • Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet. 2007;8:26. doi:10.1186/1471-2156-8-26. Epub 2007 May 18. PMID: 17511870.
  • Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Tischfield MA, et al. Cell. 2010;140(1):74-87. doi:10.1016/j.cell.2009.12.011. PMID: 20074521.
  • Tischfield MA, Cederquist GY, Gupta ML, Engle EC. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev. 2011;21(3):286-94. doi:10.1016/j.gde.2011.01.003. Epub 2011 Feb 01. PMID: 21292473.
  • Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain. 2013;136(Pt 2):522-35. doi:10.1093/brain/aws345. Epub 2013 Jan 31. PMID: 23378218.
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: 9
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 3
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
Sequence analysis 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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