title: Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
abstract: Several X-linked disorders affect females disproportionately or exclusively. These including focal dermal hypoplasia, oral-facial-digital syndrome type I (ref. 3) and epilepsy with bilateral periventricular heterotopias. X-linked dominant inheritance with male lethality is probably responsible for sex-limited expression of these disorders, as affected women have frequent spontaneous abortions and the sex ratio of their live offspring is often skewed. The same inheritance pattern has been proposed for Rett syndrome, Aicardi syndrome and microphthalmia with linear skin defects, but in these sporadic conditions, evidence of male lethality is lacking. We investigated an unusual family with epilepsy and mental retardation limited to females (EFMR, #121250 in ref. 9); this disorder is transmitted both by females and by completely unaffected carrier males. Assignment of the EFMR disease locus (EFMR) to the X chromosome indicates that selective involvement of females in X-linked disease may in some instances result from male sparing rather than male lethality.
authors.affiliation: Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA. ryan@email.chop.edu
authors.forename: S G
authors.initials: SG
authors.lastname: Ryan
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: C H
authors.initials: CH
authors.lastname: Zou
authors.forename: N B
authors.initials: NB
authors.lastname: Spinner
authors.forename: J A
authors.initials: JA
authors.lastname: Golden
authors.forename: S
authors.initials: S
authors.lastname: Smietana
mesh_terms: D002540:Cerebral Cortex / Q000473:pathology; D002874:Chromosome Mapping; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D018392:Genomic Imprinting; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D012727:Sex Characteristics; D014960:X Chromosome
chemical_list: D005819:Genetic Markers