Bloom syndrome

Common Name(s)

Bloom syndrome

Bloom syndrome is a genetic condition that affects height, skin, and increases the risk of cancer. Individuals with Bloom syndrome are shorter than the rest of their family (short stature) and develop a red butterfly shaped rash on the face, along with rashes on other areas of the skin that are exposed to the sun. These rashes usually have abnormally large blood vessels (telangiectases). Other skin features include dark and light spots on the part of the skin that is not exposed to the sun. People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose. Additional features of Bloom syndrome may include a weakened immune system that increases the risk for respiratory infections, chronic obstructive pulmonary disease (COPD), increased risk for diabetes, and learning issues. Bloom syndrome also causes a significantly increased risk of all cancer types.

Bloom syndrome is caused by a change (mutation) in the BLM gene and is inherited in an autosomal recessive way, which means a person must have a mutation in both copies of the BLM gene to have the condition. The BLM gene provides an instruction to the body to make a protein called RecQ helicase, which helps maintains DNA. When the BLM gene is mutated, the RecQ helicase protein cannot function correctly, leading to chronic damage to the DNA and abnormal cell function. This damage and abnormal cell function is the cause of the symptoms seen in Bloom syndrome.

A diagnosis of Bloom syndrome is considered in a child who has short stature and sensitive skin. Genetic testing is used to confirm the diagnosis. Treatment usually includes avoiding sun exposure and monitoring for cancer. If your child has been diagnosed with Bloom syndrome, talk with their doctor about all treatment options. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bloom syndrome" for support, advocacy or research.

Bloom's Syndrome Association, Inc.

The mission of the Association is to foster interactions among its members, so that they might learn from and support one another; to raise funds for research to advance treatments and a cure for Bloom’s syndrome; and to raise public awareness about the syndrome and its importance to worldwide cancer research.

Last Updated: 25 Sep 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bloom syndrome" for support, advocacy or research.

Bloom's Syndrome Association, Inc.

The mission of the Association is to foster interactions among its members, so that they might learn from and support one another; to raise funds for research to advance treatments and a cure for Bloom’s syndrome; and to raise public awareness about the syndrome and its importance to worldwide cancer research.

http://www.bloomssyndromeassociation.org/

Last Updated: 25 Sep 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bloom syndrome" returned 79 free, full-text research articles on human participants. First 3 results:

Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM.
 

Author(s): Nichole Owen, James Hejna, Scott Rennie, Asia Mitchell, Amy Hanlon Newell, Navid Ziaie, Robb E Moses, Susan B Olson

Journal: Cytogenet. Genome Res.. 2014 ;144(4):255-63.

 

Biallelic mutations in BLM cause Bloom syndrome (BS), a genome instability disorder characterized by growth retardation, sun sensitivity and a predisposition to cancer. As evidence of decreased genome stability, BS cells demonstrate not only elevated levels of spontaneous sister chromatid ...

Last Updated: 21 Apr 2015

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Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer.
 

Author(s): Arvind Arora, Tarek M A Abdel-Fatah, Devika Agarwal, Rachel Doherty, Paul M Moseley, Mohammed A Aleskandarany, Andrew R Green, Graham Ball, Alaa T Alshareeda, Emad A Rakha, Stephen Y T Chan, Ian O Ellis, Srinivasan Madhusudan

Journal: Mol. Cancer Ther.. 2015 Apr;14(4):1057-65.

 

Bloom syndrome helicase (BLM) has key roles in homologous recombination repair, telomere maintenance, and DNA replication. Germ-line mutations in the BLM gene causes Bloom syndrome, a rare disorder characterized by premature aging and predisposition to multiple cancers, including ...

Last Updated: 11 Apr 2015

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Structure of the RecQ C-terminal domain of human Bloom syndrome protein.
 

Author(s): Sun-Yong Kim, Toshio Hakoshima, Ken Kitano

Journal:

 

Bloom syndrome is a rare genetic disorder characterized by genomic instability and cancer predisposition. The disease is caused by mutations of the Bloom syndrome protein (BLM). Here we report the crystal structure of a RecQ C-terminal (RQC) domain from human BLM. The structure reveals ...

Last Updated: 22 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bloom syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome.
 

Author(s): Rong Guo, Dongyi Xu, Weidong Wang

Journal: Methods. 2009 May;48(1):72-9.

 

The use of co-immunoprecipitation (co-IP) to purify multi-protein complexes has contributed greatly to our understanding of the DNA damage response network associated with Fanconi anemia (FA), Bloom syndrome (BS) and breast cancer. Four new FA genes and two new protein partners for ...

Last Updated: 27 May 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.