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Seckel syndrome
Research Genetic test
Help
offered by
Laboratory of Andrew Jackson
GTR Test Accession: Help GTR000302980.5
INHERITED DISEASESYNDROMIC DISEASE
Last updated in GTR: 2021-11-01
View version history
Last annual review date for the lab: 2021-11-01 Past due LinkOut
At a Glance
Conditions (1): Help
Seckel syndrome
Chromosomal regions/ Mitochondria (1): Help
Human genome
Genes (2): Help
CENPJ (13q12.12-12.13), CEP152 (15q21.1)
Study description: Help
The characterisation of genes mutated in brain size disorders, such …
Recruitment status: Help
Currently open
Eligibility criteria: Help
All individuals with a head circumference and height > 4 …
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Study Description
Name: Help
Genetics of Growth
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
The characterisation of genes mutated in brain size disorders, such as microcephaly, promise to make inroads into understanding regulation of brain size and its relationship to evolution. We are continuing to identify new genes underlying primordial dwarfism, from PCNT, to more recently CEP152 and ORC1. Patients recruited to our study … View more
View citations (5)
  • Cox J, Jackson AP, Bond J, Woods CG. What primary microcephaly can tell us about brain growth. Trends Mol Med. 2006;12(8):358-66. doi:10.1016/j.molmed.2006.06.006. Epub 2006 Jul 10. PMID: 16829198.
  • Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008;40(2):232-6. doi:10.1038/ng.2007.80. Epub 2007 Dec 23. PMID: 18157127.
  • Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011;43(1):23-6. doi:10.1038/ng.725. Epub 2010 Dec 05. PMID: 21131973.
  • Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43(4):356-9. doi:10.1038/ng.775. Epub 2011 Feb 27. PMID: 21358632.
  • Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43(4):350-5. doi:10.1038/ng.776. Epub 2011 Feb 27. PMID: 21358633.
Offered by: Help
Laboratory of Andrew Jackson
Person responsible for the study: Help
Andrew Jackson, PhD, Lab Director
Study contact: Help
Andrew Jackson, PhD, Lab Director
Co-investigator: Help
Margaret MacDonald, PhD, Administrator
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
All individuals with a head circumference and height > 4 SD below the mean.
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 2
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 select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Test Procedure: Help
Results are fed back to the referring clinician. We recommend confirmation of any positive results in a clinical/diagnostic setting.
Test Confirmation: Help
Results are fed back to the referring clinician. We recommend confirmation of any positive results in a clinical/diagnostic setting.
Test Comments: Help
Individuals may be screened for common mutations in known genes and will be added to a research cohort to screen for novel candidate disease genes and possible exome sequencing to determine the genetic cause.
Additional Information

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