Article
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Human mutation - 1 May 2016
Donovan Frank X, Kimble Danielle C, Kim Yonghwan, Lach Francis P, Harper Ursula, Kamat Aparna, Jones MaryPat, Sanborn Erica M, Tryon Rebecca, Wagner John E, MacMillan Margaret L, Ostrander Elaine A, Auerbach Arleen D, Smogorzewska Agata, Chandrasekharappa Settara C
Abstract excerpt
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...
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