title: Kousseff syndrome: a causally heterogeneous disorder.
abstract: The existence of Kousseff syndrome as a distinct entity has been thrown into doubt by a recent study conducted on the family originally reported by Kousseff. In all cases where chromosome 22q11.2 FISH testing has been undertaken, including the original sibship, a chromosome 22q11.2-microdeletion has been identified. We report two cases of sacral myelomeningocele associated with a conotruncal cardiac anomaly or "Kousseff syndrome." The first case, a 4-year-old girl, had a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum and mild-moderate developmental delay. Chromosome 22q11.2 FISH was normal and the facial phenotype was not that of velocardiofacial syndrome. Sequencing of the entire coding region of CITED2 did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2-microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder.
authors.affiliation: Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Maclean
authors.forename: M J
authors.initials: MJ
authors.lastname: Field
authors.forename: A S
authors.initials: AS
authors.lastname: Colley
authors.forename: D R
authors.initials: DR
authors.lastname: Mowat
authors.forename: D B
authors.initials: DB
authors.lastname: Sparrow
authors.forename: S L
authors.initials: SL
authors.lastname: Dunwoodie
authors.forename: E P E
authors.initials: EP
authors.lastname: Kirk
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D018740:Genetic Heterogeneity; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D008591:Meningomyelocele / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics; D012447:Sacrum; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics
chemical_list: C486381:CITED2 protein, human; D004268:DNA-Binding Proteins; D012097:Repressor Proteins; D015534:Trans-Activators