title: Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
abstract: X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms. The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene. Their mother, a nonmosaic carrier, has a normal phenotype and cranial MRI. Skewed X-inactivation in the lymphocytes was also ruled out. This is the first report of an asymptomatic carrier of a DCX mutation likely due to apparent nonpenetrance.
authors.affiliation: Institute of Child Neuropsychiatry, The University of Sassari, Italy. demelas@ssmain.uniss.it
authors.forename: L
authors.initials: L
authors.lastname: Demelas
authors.forename: G
authors.initials: G
authors.lastname: Serra
authors.forename: M
authors.initials: M
authors.lastname: Conti
authors.forename: A
authors.initials: A
authors.lastname: Achene
authors.forename: C
authors.initials: C
authors.lastname: Mastropaolo
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: L L
authors.initials: LL
authors.lastname: Dudlicek
authors.forename: P L
authors.initials: PL
authors.lastname: Mills
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: S
authors.initials: S
authors.lastname: Das
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D014960:X Chromosome / Q000235:genetics*
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides