Asplenia in two father-son pairs.
We report on two father-son pairs with isolated nonsyndromal asplenia. This may represent autosomal dominant inheritance of a mutation in a gene involved with spleen development and determination of laterality. The incidence of hereditary isolated asplenia is unknown; therefore, screening for asplenia in first degree relatives of individuals with (poly)asplenia should be considered.
Lindor
N M
NM
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Smithson
W A
WA
Ahumada
C A
CA
Michels
V V
VV
Opitz
J M
JM
D002648:Child; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013154:Spleen / Q000002:abnormalities*