Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood... INTRODUCTIONFanconi anemia (FA) is a DNA repair deficiency syndrome, and is characterized by developmental abnormalities, bone marrow failure, and predisposition to cancer, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) and solid tumors, especially squamous cell carcinoma of the head and neck (Kottemann & Smogorzewska, ; Mamrak, Shimamura, & Howlett, ; Mehta & Tolar, ). Apart from X‐linked FANCB, and dominant negative variants in RAD51/FANCR, FA is an autosomal recessive disease, caused by the inheritance of biallelic mutations in any of the 20 other FA genes: FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/XPF, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7, FANCW/RFWD3 (Knies et al., ; Mamrak et al., ; Wang & Smogorzewska, ). FA is both genetically and phenotypically a heterogeneous disorder. The underlying problem is inability of FA cells to repair DNA interstrand crosslinks (ICLs).The congenital abnormalities in an FA patient may affect multiple organ systems and include growth (short stature), skin pigmentation, thumb and radial bone, uro‐genital, eye, ear and hearing, gastrointestinal, and central nervous system (CNS) anomalies (Auerbach, ). The phenotypic expression of these abnormalities is highly variable, and is displayed by about two‐thirds of FA patients. However, the malformations are usually severe http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics & Genomic Medicine Wiley

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

Loading next page...
 
/lp/wiley/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-luUdemchT3
Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 John Wiley & Sons Ltd.
ISSN
2324-9269
eISSN
2324-9269
D.O.I.
10.1002/mgg3.350
Publisher site
See Article on Publisher Site

Abstract

INTRODUCTIONFanconi anemia (FA) is a DNA repair deficiency syndrome, and is characterized by developmental abnormalities, bone marrow failure, and predisposition to cancer, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) and solid tumors, especially squamous cell carcinoma of the head and neck (Kottemann & Smogorzewska, ; Mamrak, Shimamura, & Howlett, ; Mehta & Tolar, ). Apart from X‐linked FANCB, and dominant negative variants in RAD51/FANCR, FA is an autosomal recessive disease, caused by the inheritance of biallelic mutations in any of the 20 other FA genes: FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/XPF, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7, FANCW/RFWD3 (Knies et al., ; Mamrak et al., ; Wang & Smogorzewska, ). FA is both genetically and phenotypically a heterogeneous disorder. The underlying problem is inability of FA cells to repair DNA interstrand crosslinks (ICLs).The congenital abnormalities in an FA patient may affect multiple organ systems and include growth (short stature), skin pigmentation, thumb and radial bone, uro‐genital, eye, ear and hearing, gastrointestinal, and central nervous system (CNS) anomalies (Auerbach, ). The phenotypic expression of these abnormalities is highly variable, and is displayed by about two‐thirds of FA patients. However, the malformations are usually severe

Journal

Molecular Genetics & Genomic MedicineWiley

Published: Jan 1, 2018

Keywords: ; ; ; ;

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off