Fanconi anemia and moyamoya: evidence for an association.
We report two patients with Fanconi anemia (FA) and moyamoya disease taken from a clinical database composed of 434 FA patients. Both are compound heterozygotes for the 322delG and R185X mutations in the FA complementation group C (FACC) gene. This combination of mutations is not found in any other of the 174 FA families screened. Either the 322delG or R185X mutation alone or in combination may predispose to primary, possibly congenital, vascular anomalies.
Pavlakis
S G
SG
Department of Neurology, New York Hospital-Cornell Medical Center, NY 10021, USA.
Verlander
P C
PC
Gould
R J
RJ
Strimling
B C
BC
Auerbach
A D
AD
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D009072:Moyamoya Disease / Q000150:complications* / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational