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Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia

Authors :
Erica Sanborn
John E. Wagner
Settara C. Chandrasekharappa
Margaret L. MacMillan
Danielle C. Kimble
Aparna Kamat
Yonghwan Kim
Rebecca Tryon
Frank X. Donovan
MaryPat Jones
Arleen D. Auerbach
Elaine A. Ostrander
Francis P. Lach
Ursula Harper
Agata Smogorzewska
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.

Details

ISSN :
10597794
Volume :
37
Database :
OpenAIRE
Journal :
Human Mutation
Accession number :
edsair.doi...........b6727edee6ee930c0aacc70c5dde87d2
Full Text :
https://doi.org/10.1002/humu.22962