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Meier-Gorlin syndrome
Research Genetic test
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offered by
Bicknell laboratory
GTR Test Accession: Help GTR000529599.3
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-10-05
View version history
Last annual review date for the lab: 2023-09-28 LinkOut
At a Glance
Conditions (8): Help
Meier-Gorlin syndrome 1; Meier-Gorlin syndrome; Meier-Gorlin syndrome 2; ...
Genes (7): Help
CDC45 (22q11.21), CDC6 (17q21.2), CDT1 (16q24.3), GMNN (6p22.3), ORC1 (1p32.3), ...
Study description: Help
This study will investigate how variants present in the human …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals clinically diagnosed with Meier-Gorlin syndrome.
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Human variation causing and shaping genetic disease
Protocol number: Help
NZ HDEC: 16/STH/3
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
This study will investigate how variants present in the human genome cause or influence the phenotypes of genetic disorders. Of particular focus is Meier-Gorlin syndrome.
View citations (4)
  • 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.
  • de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012;20(6):598-606. doi:10.1038/ejhg.2011.269. Epub 2012 Feb 15. PMID: 22333897.
  • de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A. 2012;158A(11):2733-42. doi:10.1002/ajmg.a.35681. Epub 2012 Sep 28. PMID: 23023959.
Study type: Help
Observational study
Offered by: Help
Bicknell laboratory
Person responsible for the study: Help
Louise Bicknell, PhD, Lab Director
Study contact: Help
Louise Bicknell, PhD, Lab Director
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals clinically diagnosed with Meier-Gorlin syndrome.
Consent form: Help
Not provided
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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