title: Asplenia in two father-son pairs.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: N M
authors.initials: NM
authors.lastname: Lindor
authors.forename: W A
authors.initials: WA
authors.lastname: Smithson
authors.forename: C A
authors.initials: CA
authors.lastname: Ahumada
authors.forename: V V
authors.initials: VV
authors.lastname: Michels
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D002648:Child; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013154:Spleen / Q000002:abnormalities*