Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene

Luisa Demelas, G. Serra, M. Conti, A. Achene, C. Mastropaolo, N. Matsumoto, L. L. Dudlicek, P. L. Mills, W. B. Dobyns, D. H. Ledbetter, S. Das

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

X-linked isolated lissencephaly sequence (ILS) and sub-cortical 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.

Original languageEnglish (US)
Pages (from-to)327-330
Number of pages4
JournalNeurology
Volume57
Issue number2
DOIs
StatePublished - Jul 24 2001
Externally publishedYes

Fingerprint Dive into the research topics of 'Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene'. Together they form a unique fingerprint.

Cite this