Abstract
Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers. Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic of the syndrome. A common founder mutation designated blmAsh is present in about 1 in 100 persons of Eastern European Jewish ancestry, and there are additional recurrent founder mutations among other populations. Missense, nonsense, and frameshift mutations as well as multiexonic deletions have all been observed. Bloom's syndrome is a prototypical chromosomal instability syndrome, and the somatic mutations that occur as a result of that instability are responsible for the increased cancer risk. Although there is currently no treatment aimed at the underlying genetic abnormality, persons with Bloom's syndrome benefit from sun protection, aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 4-23 |
| Number of pages | 20 |
| Journal | Molecular Syndromology |
| Volume | 8 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2017 |
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Keywords
- BLM
- Bloom's syndrome
- Cancer
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Bloom's syndrome : Clinical spectrum, molecular pathogenesis, and cancer predisposition. / Cunniff, Christopher M; Bassetti, Jennifer A.; Ellis, Nathan.
In: Molecular Syndromology, Vol. 8, No. 1, 01.01.2017, p. 4-23.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Bloom's syndrome
T2 - Clinical spectrum, molecular pathogenesis, and cancer predisposition
AU - Cunniff, Christopher M
AU - Bassetti, Jennifer A.
AU - Ellis, Nathan
PY - 2017/1/1
Y1 - 2017/1/1
N2 - Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers. Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic of the syndrome. A common founder mutation designated blmAsh is present in about 1 in 100 persons of Eastern European Jewish ancestry, and there are additional recurrent founder mutations among other populations. Missense, nonsense, and frameshift mutations as well as multiexonic deletions have all been observed. Bloom's syndrome is a prototypical chromosomal instability syndrome, and the somatic mutations that occur as a result of that instability are responsible for the increased cancer risk. Although there is currently no treatment aimed at the underlying genetic abnormality, persons with Bloom's syndrome benefit from sun protection, aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
AB - Bloom's syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early onset of cancer and for the development of multiple cancers. Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that are pathognomonic of the syndrome. A common founder mutation designated blmAsh is present in about 1 in 100 persons of Eastern European Jewish ancestry, and there are additional recurrent founder mutations among other populations. Missense, nonsense, and frameshift mutations as well as multiexonic deletions have all been observed. Bloom's syndrome is a prototypical chromosomal instability syndrome, and the somatic mutations that occur as a result of that instability are responsible for the increased cancer risk. Although there is currently no treatment aimed at the underlying genetic abnormality, persons with Bloom's syndrome benefit from sun protection, aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
KW - BLM
KW - Bloom's syndrome
KW - Cancer
UR - http://www.scopus.com/inward/record.url?scp=84994791057&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84994791057&partnerID=8YFLogxK
U2 - 10.1159/000452082
DO - 10.1159/000452082
M3 - Review article
AN - SCOPUS:84994791057
VL - 8
SP - 4
EP - 23
JO - Molecular Syndromology
JF - Molecular Syndromology
SN - 1661-8769
IS - 1
ER -