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

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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
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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

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