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Departments of Neurology and Medical Genetics (Dr. Dobyns), Indiana University School of Medicine, Indianapolis, IN; the Department of Pediatrics (Dr. Elias), Tufts New England Medical Center Boston, MA; the Department of Pediatries (A.C. Newlin), Eastern Virginia Medicine School, Norfolk, VA; the Departments of Pediatrics and Ophthalmology (Dr. Pagon), University of Washington School of Medicine, Seattle, WA; and the Institute for Molecular Genetics (Dr. Ledbetter), Baylor College of Medicine, Houston, TX.
We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal. All had severe to profound mental retardation, seizures, hypotonia that evolved into spasticity, and feeding difficulties. Clinical and laboratory studies demonstrated etiologic heterogeneity. Molecular studies detected microdeletions in chromosome band 17p13.3 in six of 44 patients tested, confirming that deletion of all or part of this "critical region" is the cause of ILS in some cases. There were slightly larger deletions in the same region in a majority of patients with Miller-Dieker syndrome. One patient had an apparently balanced, de novo reciprocal translocation with breakpoints at Xq22 and 2p25. Four sibs from two families had a new, autosoma1 recessive syndrome of ILS with neonatal death. Other causes supported by clinical observations include autosoma1 recessive inheritance, intrautenne infection, and intrauterine perfusion failure. Those ILS probands in whom no etiology could he established had 41 sibs of whom three were affected, giving an empiric recurrence risk of 7%.
Address correspondence and reprint requests to Dr. Willlam B. Dobyns, Division of Pediatric Neurology. University of Minnesota P.O. Box 380, 420 Delaware Street SE, Minneapolis, MN 55455.
Supported in part by grant no. HD20619 from the, National Institutes of Health to D.H.L. and W.B.D.
Received July 22, 1991. Accepted for publication in final form December 24, 1991.
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