Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Case Study
  • Published:

Familial adenomatous polyposis in a patient with unexplained mental retardation

Nature Clinical Practice Neurology volume 3, pages 694–700 (2007)Cite this article

Abstract

Background A 22-year-old woman was referred to a genomic medicine clinic for evaluation of suspected Prader–Willi syndrome (PWS) after normal DNA methylation studies on chromosome 15 were obtained. Features suggestive of PWS included mental retardation, short stature, obesity, hypotonia, and small hands and feet. The patient, however, lacked many PWS-defining behavioral features, including hyperphagia, compulsive skin picking, and food-seeking behaviors.

Investigations DNA methylation studies on chromosome 15 were completed before the patient's presentation. At the genomic medicine clinic, she underwent standard karyotyping, array comparative genomic hybridization, fluorescent in situ hybridization analysis, colonoscopy, endoscopy, thyroid ultrasound, and thyroid fine needle aspiration biopsy.

Diagnosis Familial adenomatous polyposis with mental retardation, caused by an interstitial deletion of the long arm of chromosome 5 encompassing the APC (adenomatous polyposis coli) tumor suppressor locus.

Management Colectomy with ileorectal anastomosis and thyroidectomy with subsequent iodine-131 therapy. The patient also underwent genetic counseling and was prescribed a program of caloric reduction and exercise.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Images of the case patient with an interstitial deletion of 5q22 encompassing the APC (adenomatous polyposis coli) gene, taken at 22 years of age.
Figure 2: Pictures of the patient's hand.
Figure 3: Microarray profile for deletion of 5q22.1–q22.2 identified by array comparative genomic hybridization (aCGH).
Figure 4: Fluorescent in situ hybridization analysis performed with a bacterial artificial chromosome clone from the APC (adenomatous polyposis coli) gene region (RP11–107C15, labeled in red), revealing only a single red signal, thereby confirming the patient's chromosomal deletion at 5q22.2.

References

  1. Burt RW (2000) Colon cancer screening. Gastroenterology 119: 837–853

    Article  CAS  Google Scholar 

  2. Herrera L et al. (1986) Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 25: 473–476

    Article  CAS  Google Scholar 

  3. Arens YH et al. (2004) Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers. Am J Med Genet A 130: 128–133

    Article  Google Scholar 

  4. Barber JC et al. (1994) Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. J Med Genet 31: 312–316

    Article  CAS  Google Scholar 

  5. Cross I et al. (1992) An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet 29: 175–179

    Article  CAS  Google Scholar 

  6. Finch R et al. (2005) Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. Dis Colon Rectum 48: 2148–2152

    Article  Google Scholar 

  7. Hockey KA et al. (1989) Deletion of chromosome 5q and familial adenomatous polyposis. J Med Genet 26: 61–62

    Article  CAS  Google Scholar 

  8. Kobayashi T et al. (1991) Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Am J Med Genet 41: 460–463

    Article  CAS  Google Scholar 

  9. Lindgren V et al. (1992) Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am J Hum Genet 50: 988–997

    CAS  PubMed  PubMed Central  Google Scholar 

  10. Pilarski RT et al. (1999) Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. Am J Med Genet 86: 321–324

    Article  CAS  Google Scholar 

  11. Raedle J et al. (2001) A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. Am J Gastroenterol 96: 3016–3020

    Article  CAS  Google Scholar 

  12. Olschwang S et al. (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75: 959–968

    Article  CAS  Google Scholar 

  13. Bittel DC and Butler MG (2005) Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 7: 1–20

    Article  Google Scholar 

  14. Cassidy SB (1997) Prader–Willi syndrome. J Med Genet 34: 917–923

    Article  CAS  Google Scholar 

  15. Holm VA et al. (1993) Prader–Willi syndrome: consensus diagnostic criteria. Pediatrics 91: 398–402

    CAS  Google Scholar 

  16. Veltman JA (2006) Genomic microarrays in clinical diagnosis. Curr Opin Pediatr 18: 598–603

    Article  Google Scholar 

  17. Lu X et al. (2007) Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2: e327

    Article  Google Scholar 

  18. Shaffer LG et al. (2006) Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149: 98–102

    Article  CAS  Google Scholar 

Download references

Acknowledgements

C Eng is a recipient of the Doris Duke Distinguished Clinical Scientist Award. The authors are grateful to Signature Genomics Laboratory for supplying figures for this publication.

Author information

Authors and Affiliations

  1. and C Burke is a Gastroenterologist and Director of the Center for Colon Polyp and Cancer Prevention in the Department of Gastroenterology and Hepatology and the Taussig Cancer Center, M Milas is a Staff Endocrine Surgeon in the General Surgery Department at the Cleveland Clinic and Associate Professor at the Cleveland Clinic Lerner College of Medicine, and Professor and Vice Chairman of the Department of Genetics at Case Western Reserve University School of Medicine, B Heald is a Genetic Counselor at the Center for Personalized Genetic Healthcare in the Genomic Medicine Institute and the Taussig Cancer Center, R Moran is a Clinical Geneticist in the Genomic Medicine Institute, all at the Cleveland Clinic, and C Eng is Chair and Founding Director of the Genomic Medicine Institute and the Founding Director of the Center for Personalized Genetic Healthcare at the Cleveland Clinic Foundation, Cleveland, OH, USA.,

    Brandie Heald, Rocio Moran, Mira Milas, Carol Burke & Charis Eng

Authors
  1. Brandie Heald
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rocio Moran
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mira Milas
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Carol Burke
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Charis Eng
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Charis Eng.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Heald, B., Moran, R., Milas, M. et al. Familial adenomatous polyposis in a patient with unexplained mental retardation. Nat Rev Neurol 3, 694–700 (2007). https://doi.org/10.1038/ncpneuro0658

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ncpneuro0658

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing