title: Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
abstract: Rett syndrome (RTT) has been described in its classic form only in females. Although the majority of cases are sporadic, familial cases give valuable insight into the genetic basis and phenotypic variability of the disorder. The exclusive occurrence of classic Rett syndrome in females led to the hypothesis that the Rett syndrome locus is likely to be X-linked and mutations are lethal in hemizygous males. We identified two boys in families with recurrent Rett syndrome who had encephalopathies with neonatal onset and who may represent the phenotype of males harboring Rett syndrome mutations. The difference in severity of disease in these males and their female relatives supports the location of Rett syndrome locus on the X-chromosome.
authors.affiliation: Department of Pediatrics and Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, CA 90095-1752, USA.
authors.forename: N C
authors.initials: NC
authors.lastname: Schanen
authors.forename: T W
authors.initials: TW
authors.lastname: Kurczynski
authors.forename: D
authors.initials: D
authors.lastname: Brunelle
authors.forename: M M
authors.initials: MM
authors.lastname: Woodcock
authors.forename: L S
authors.initials: LS
authors.lastname: Dure
authors.forename: A K
authors.initials: AK
authors.lastname: Percy
mesh_terms: D001927:Brain Diseases / Q000151:congenital / Q000235:genetics*; D018450:Disease Progression; D005192:Family Health; D017809:Fatal Outcome; D005804:Genes, Lethal; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics* / Q000503:physiopathology; D014960:X Chromosome