Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 60, Issue 7, Pages 369-373Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2017.04.008
Keywords
Fanconi Anemia; FANCL gene; SETBP1 gene
Categories
Funding
- National Natural Science Foundation of China [31471204]
- Shenzhen science and technology innovation [JCYJ20150402090413001]
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Fanconi Anemia (FA) is a rare genetically heterogeneous disorder with 17 known complement groups caused by mutations in different genes. FA complementation group L (FA-L, OMIM #608111) occurred in 0.2% of all FA and only eight mutant variants in the FANCL gene were documented. Phenotype and genotype correlation in FANCL associated FA is still obscure. Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. The patient's clinical course was typical for FA with progression to bone marrow failure, and death from acute myelomonocytic leukemia (AML-M4) at 9 years of age. Mutation analysis also detected a likely somatic c.2608G > A (p.Gly870Ser) in the SETBP1 gene. Consistent copy number losses of 7q and 18p and gains of 3q and 21q and accumulated non-clonal single cell chromosomal abnormalities were detected in blood leukocytes as her FA progressed. This is the first Chinese FA-L case caused by a novel FANCL mutation. The somatic gene mutation and copy number aberrations could be used to monitor disease progression and the clinical findings provide further information for genotype-phenotype correlation for FA-L. (C) 2017 Elsevier Masson SAS. All rights reserved.
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