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Genetics Home Reference: your guide to understanding genetic conditions
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Bloom syndrome

Reviewed November 2010

What is Bloom syndrome?

Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.

People with Bloom syndrome have low birth weight and length. They remain much shorter and thinner than others in their family, growing to an adult height of less than 5 feet.

Affected individuals usually develop dilated blood vessels and reddening in the skin, particularly in response to sun exposure. These changes typically appear as a butterfly-shaped patch of reddened skin across the nose and cheeks. The skin changes may also affect the hands and arms.

People with Bloom syndrome have an increased risk of cancer. They can develop any of the cancers found in the general population, but the cancers arise unusually early in life, and affected individuals often develop more than one type of cancer.

Individuals with this disorder often have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; a large nose; and prominent ears. Other features affecting some people with Bloom syndrome include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm, and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause earlier than usual.

How common is Bloom syndrome?

Bloom syndrome is a very rare disorder in most populations, and its overall frequency is unknown. The disorder is more common in people of Central and Eastern European (Ashkenazi) Jewish background, among whom about 1 in 50,000 are affected. Approximately one-third of people with Bloom syndrome are of Ashkenazi Jewish descent.

What genes are related to Bloom syndrome?

Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. Because RecQ helicases maintain the structure and integrity of DNA, they are known as the "caretakers of the genome."

When a cell prepares to divide to form two cells, the DNA that makes up the chromosomes is copied so that each new cell will get a complete set of chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Sister chromatids exchange small sections of DNA (sister chromatid exchange) during this time.

The BLM protein interacts with several other proteins involved in the maintenance of genome integrity. With the help of its partner proteins, BLM suppresses sister chromatid exchanges and helps to maintain DNA stability during the copying process.

BLM gene mutations prevent the BLM protein from performing its function in maintaining genomic stability. As a result of the altered BLM protein activity, the frequency of sister chromatid exchange increases about 10-fold, which is a hallmark of Bloom syndrome. Increased sister chromatid exchange is an indicator of chromosome instability. It is associated with gaps and breaks in the genetic material that impair normal cell activities and cause the health problems associated with this condition. Cancer results from genetic changes that allow cells to divide in an uncontrolled way. Altered BLM protein activity may also lead to an increase in cell death, resulting in slow growth in affected individuals.

Related Gene(s)

Changes in this gene are associated with Bloom syndrome.

  • BLM

How do people inherit Bloom syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Bloom syndrome?

These resources address the diagnosis or management of Bloom syndrome and may include treatment providers.

  • Gene Review: Bloom's Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1398/)
  • Genetic Testing Registry: Bloom syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0005859)
  • MedlinePlus Encyclopedia: Short Stature (http://www.nlm.nih.gov/medlineplus/ency/article/003271.htm)

You might also find information on the diagnosis or management of Bloom syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/bloom-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/bloom-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Bloom syndrome?

You may find the following resources about Bloom syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Bloom syndrome?

  • Bloom's syndrome
  • Bloom-Torre-Machacek syndrome
  • congenital telangiectatic erythema

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Bloom syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Bloom syndrome?

Ashkenazi Jewish ; autosomal ; autosomal recessive ; cancer ; cell ; cell division ; chromatid ; chromosome ; chronic ; chronic obstructive pulmonary disease ; congenital ; COPD ; diabetes ; dilated ; disabilities ; DNA ; double helix ; erythema ; fertility ; gene ; genome ; infertile ; menopause ; molecule ; obstructive ; population ; protein ; pulmonary ; recessive ; respiratory ; short stature ; sister chromatid ; sister chromatid exchange ; sperm ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006 May 8;236(1):1-12. Epub 2005 Jun 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15950375?dopt=Abstract)
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Kprones/BLO10002.html)
  • Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans. 2005 Dec;33(Pt 6):1456-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16246145?dopt=Abstract)
  • German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat. 2007 Aug;28(8):743-53. (http://www.ncbi.nlm.nih.gov/pubmed/17407155?dopt=Abstract)
  • Guo RB, Rigolet P, Ren H, Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res. 2007;35(18):6297-310. Epub 2007 Sep 18. (http://www.ncbi.nlm.nih.gov/pubmed/17878217?dopt=Abstract)
  • Kaneko H, Kondo N. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn. 2004 May;4(3):393-401. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15137905?dopt=Abstract)
  • Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20):2737-42. doi: 10.1101/gad.1732808. (http://www.ncbi.nlm.nih.gov/pubmed/18923071?dopt=Abstract)
  • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=125)
  • Ouyang KJ, Woo LL, Ellis NA. Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases. Mech Ageing Dev. 2008 Jul-Aug;129(7-8):425-40. doi: 10.1016/j.mad.2008.03.003. Epub 2008 Mar 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18430459?dopt=Abstract)
  • Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test. 1999;3(2):219-21. (http://www.ncbi.nlm.nih.gov/pubmed/10464671?dopt=Abstract)
  • Singh DK, Ahn B, Bohr VA. Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology. 2009 Jun;10(3):235-52. doi: 10.1007/s10522-008-9205-z. Epub 2008 Dec 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19083132?dopt=Abstract)
  • Wu L. Role of the BLM helicase in replication fork management. DNA Repair (Amst). 2007 Jul 1;6(7):936-44. Epub 2007 Mar 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17363339?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2010
Published: July 7, 2014