Ontology highlight
ABSTRACT:
SUBMITTER: Kimble DC
PROVIDER: S-EPMC5762269 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Kimble Danielle C DC Lach Francis P FP Gregg Siobhan Q SQ Donovan Frank X FX Flynn Elizabeth K EK Kamat Aparna A Young Alice A Vemulapalli Meghana M Thomas James W JW Mullikin James C JC Auerbach Arleen D AD Smogorzewska Agata A Chandrasekharappa Settara C SC
Human mutation 20171122 2
Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two-thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi Anemia Registry (IFAR) we employed multiple methodologies, screening 216 families for FANCA mutations. We describe identification of 57 large deletions and 261 sequence variants, in 159 families. All but seven families harbored distinct combinations of two mutations demonstrating ...[more]