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Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia
- Source :
- Human Mutation. 37:465-468
- Publication Year :
- 2016
- Publisher :
- Hindawi Limited, 2016.
-
Abstract
- Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele. FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem repeat markers and SNP arrays revealed uniparental disomy (UPD) of the entire mutation-carrying chromosome 16 in all four patients. One FANCA patient had paternal UPD, whereas FA in the other three patients resulted from maternal UPD. These are the first reported cases of UPD as a cause of FA. UPD indicates a reduced risk of having another child with FA in the family and has implications in prenatal diagnosis.
- Subjects :
- 0301 basic medicine
Genetics
congenital, hereditary, and neonatal diseases and abnormalities
Bone marrow failure
Prenatal diagnosis
030105 genetics & heredity
Biology
medicine.disease
Uniparental disomy
FANCA
03 medical and health sciences
030104 developmental biology
Chromosome 16
Fanconi anemia
medicine
SNP
Genotyping
Genetics (clinical)
Subjects
Details
- ISSN :
- 10597794
- Volume :
- 37
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi...........b6727edee6ee930c0aacc70c5dde87d2
- Full Text :
- https://doi.org/10.1002/humu.22962