Bloom syndrome (Concept Id: C0005859) - MedGen - NCBI

Bloom syndrome (Concept Id: C0005859) - MedGen - NCBI

Bloom syndrome(BLM)

MedGen UID: 

2685

•Concept ID: 

C0005859

•

Disease or Syndrome

Synonyms:	BLM; Bloom's syndrome; Bloom-Torre-Machacek syndrome; congenital telangiectatic erythema; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
Modes of inheritance:	Autosomal recessive inheritance
SNOMED CT:	BS - Bloom syndrome (4434006); Bloom syndrome (4434006); Congenital telangiectatic erythema syndrome (4434006)
Gene:	BLM
Cytogenetic location:	15q26.1
OMIM®:	210900
Orphanet:	ORPHA125

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Disease characteristics

Excerpted from the GeneReview: Bloom's Syndrome

Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined (and little studied) learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn is very rare in all national and ethnic groups but is relatively less rare in Ashkenazi Jews. [from GeneReviews]

Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  | References  |  Chapter Notes

Authors:
Maureen M Sanz  |  James German   view full author information

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Additional descriptions

From OMIM
Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.  http://www.omim.org/entry/210900

From GHR
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.  http://ghr.nlm.nih.gov/condition/bloom-syndrome

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Clinical features

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• Abnormality of blood and blood-forming tissues
• Abnormality of head or neck
• Abnormality of limbs
• Abnormality of metabolism/homeostasis
• Abnormality of the abdomen
• Abnormality of the ear
• Abnormality of the endocrine system
• Abnormality of the genitourinary system
• Abnormality of the immune system
• Abnormality of the integument
• Abnormality of the nervous system
• Abnormality of the respiratory system
• Abnormality of the skeletal system
• Abnormality of the voice
• Growth abnormality
• Neoplasm

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Term Hierarchy

• GTR
• MedGen

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

• CROGAshkenazi Jewish disorders
  • CROGBloom syndrome
  • CROGCystic fibrosis
  • CROGFamilial dysautonomia
  • CROGFanconi anemia, complementation group C
  • CROGGanglioside sialidase deficiency
  • CROGGaucher's disease, type 1
  • CROGNiemann-Pick disease, type A
  • CROGSpongy degeneration of central nervous system
  • CROGTay-Sachs disease
  • CROGTorsion dystonia

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Professional guidelines

PubMed

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

ACOG Committee on Genetics
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064

Carrier screening in individuals of Ashkenazi Jewish descent.

Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

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Recent clinical studies

Etiology

Bloom syndrome.

Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. [Epub ahead of print] PMID: 24602044

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670

Proton beam therapy for malignancy in Bloom syndrome.

Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610

Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

Mirzaei H, Schmidt KH
Proc Natl Acad Sci U S A 2012 Nov 20;109(47):19357-62. Epub 2012 Nov 5 doi: 10.1073/pnas.1210304109. [Epub ahead of print] PMID:23129629Free PMC Article

Bloom syndrome complicated by colonic cancer in a young Tunisian woman.

Benjazia E, Turki H, Atig A, Khalifa M, Letaief A, Bahri F, Braham A
Clin Res Hepatol Gastroenterol 2011 Oct;35(10):682-4. Epub 2011 Jul 22 doi: 10.1016/j.clinre.2011.06.001. [Epub ahead of print] PMID: 21778134

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Diagnosis

Bloom syndrome.

Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. [Epub ahead of print] PMID: 24602044

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670

Proton beam therapy for malignancy in Bloom syndrome.

Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610

Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

Mirzaei H, Schmidt KH
Proc Natl Acad Sci U S A 2012 Nov 20;109(47):19357-62. Epub 2012 Nov 5 doi: 10.1073/pnas.1210304109. [Epub ahead of print] PMID:23129629Free PMC Article

Bloom syndrome complicated by colonic cancer in a young Tunisian woman.

Benjazia E, Turki H, Atig A, Khalifa M, Letaief A, Bahri F, Braham A
Clin Res Hepatol Gastroenterol 2011 Oct;35(10):682-4. Epub 2011 Jul 22 doi: 10.1016/j.clinre.2011.06.001. [Epub ahead of print] PMID: 21778134

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Therapy

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670

Characteristics of children with non-hodgkin lymphoma associated with primary immune deficiency diseases: descriptions of five patients.

Emir S, Vezir E, Azkur D, Demir HA, Metin A
Pediatr Hematol Oncol 2013 Sep;30(6):544-53. Epub 2013 May 7 doi: 10.3109/08880018.2013.792893. [Epub ahead of print] PMID: 23647505

Proton beam therapy for malignancy in Bloom syndrome.

Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.

Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C
Genet Test 1998;2(4):293-6. PMID: 10464606

Relationship of DNA strand breakage produced by bromodeoxyuridine to topoisomerase II activity in Bloom-syndrome fibroblasts.

Pommier Y, Rünger TM, Kerrigan D, Kraemer KH
Mutat Res 1991 Mar;254(2):185-90. PMID: 1848352

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Prognosis

Bloom syndrome.

Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. [Epub ahead of print] PMID: 24602044

A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

Antczak A, Kluźniak W, Wokołorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Masojć B, Górski B, Gromowski T, Nagorna A, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Domagała P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Prostate Cancer Consortium; Other members of the Polish Hereditary Prostate Cancer Consortium, Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Słupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagała W, Chosia M, van de Wetering T, Serrano-Fernández P, Puszyński M, Soczawa M, Switała J, Archimowicz S, Kordowski M, Zyczkowski M, Borówka A, Bagińska J, Krajka K, Szwiec M, Haus O, Janiszewska H, Stembalska A, Sąsiadek MM
Gene 2013 Dec 15;532(2):173-6. Epub 2013 Oct 2 doi: 10.1016/j.gene.2013.09.079. [Epub ahead of print] PMID: 24096176

Proton beam therapy for malignancy in Bloom syndrome.

Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610

Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.

Kaneko H, Kondo N
Expert Rev Mol Diagn 2004 May;4(3):393-401. doi: 10.1586/14737159.4.3.393. PMID: 15137905

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.

Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C
Genet Test 1998;2(4):293-6. PMID: 10464606

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Clinical prediction guides

Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs.

Nguyen GH, Tang W, Robles AI, Beyer RP, Gray LT, Welsh JA, Schetter AJ, Kumamoto K, Wang XW, Hickson ID, Maizels N, Monnat RJ Jr, Harris CC
Proc Natl Acad Sci U S A 2014 Jul 8;111(27):9905-10. Epub 2014 Jun 23 doi: 10.1073/pnas.1404807111. [Epub ahead of print] PMID:24958861Free PMC Article

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670

FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease.

Schrötter A, Mastalski T, Nensa FM, Neumann M, Loosse C, Pfeiffer K, Magraoui FE, Platta HW, Erdmann R, Theiss C, Uszkoreit J, Eisenacher M, Meyer HE, Marcus K, Müller T
J Cell Sci 2013 Jun 1;126(Pt 11):2480-92. Epub 2013 Apr 9 doi: 10.1242/jcs.121004. [Epub ahead of print] PMID: 23572515

Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome.

Hoadley KA, Xue Y, Ling C, Takata M, Wang W, Keck JL
Proc Natl Acad Sci U S A 2012 Mar 20;109(12):4437-42. Epub 2012 Mar 5 doi: 10.1073/pnas.1117279109. [Epub ahead of print] PMID:22392978Free PMC Article

Augmented cell death with Bloom syndrome helicase deficiency.

Kaneko H, Fukao T, Kasahara K, Yamada T, Kondo N
Mol Med Rep 2011 Jul-Aug;4(4):607-9. Epub 2011 May 3 doi: 10.3892/mmr.2011.484. [Epub ahead of print] PMID: 21567087

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Recent systematic reviews

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T
Breast Cancer Res Treat 2013 Jan;137(2):533-9. Epub 2012 Dec 6 doi: 10.1007/s10549-012-2357-1. [Epub ahead of print] PMID: 23225144

Mendelian genetic causes of the short child born small for gestational age.

Chernausek SD
J Endocrinol Invest 2006;29(1 Suppl):16-20. PMID: 16615302

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

ACOG Committee on Genetics
Obstet Gynecol 2004 Aug;104(2):425-8. PMID: 15292027