Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
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.
Demelas
L
L
Institute of Child Neuropsychiatry, The University of Sassari, Italy. demelas@ssmain.uniss.it
Serra
G
G
Conti
M
M
Achene
A
A
Mastropaolo
C
C
Matsumoto
N
N
Dudlicek
L L
LL
Mills
P L
PL
Dobyns
W B
WB
Ledbetter
D H
DH
Das
S
S
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*
C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides