LETTER TO JMG

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

D Beltrán-Valero de Bernabé¹, H van Bokhoven¹, E van Beusekom¹, W Van den Akker², S Kant³, W B Dobyns⁴, B Cormand⁵, S Currier⁶, B Hamel¹, B Talim⁷, H Topaloglu⁷, H G Brunner¹

¹ Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, Netherlands
² Netherlands Institute for Developmental Biology/Hubrecht Laboratory, Utrecht, Netherlands
³ Department of Clinical Genetics, University Medical Centre Leiden, Leiden, Netherlands
⁴ Departments of Human Genetics, Neurology, and Pediatrics, The University of Chicago, Chicago, Illinois, USA
⁵ Department of Genetics, University of Barcelona, Barcelona, Spain
⁶ Division of Neurogenetics, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA
⁷ Hacettepe Children’s Hospital, Ankara, Turkey

Correspondence to:
Correspondence to:
Dr Han G Brunner
417 Department of Human Genetics, PO Box 9101, 6500 HB Nijmegen, Netherlands; h.brunner@antrg.umcn.nl

Keywords: Walker-Warburg syndrome; Fukutin; lissencephaly; muscular dystrophy

Abbreviations: FCMD, Fukuyama congenital muscular dystrophy; MEB, muscle-eye-brain disease; WWS, Walker-Warburg syndrome

The first 150 words of the full text of this article appear below.

Neuronal migration is a key process in the development of the cerebral cortex. During neocortex lamination new sets of neurones proliferate at the subventricular zone and migrate alongside specialised radial glial fibres to occupy their final destinations in an "inside-out" fashion.¹ More than 25 neuronal migration disorders resulting in death or improper positioning of the cortical neurones have been described in humans.² In the cobblestone neocortex the postmitotic neurones do not respond to their stop signals, and, crossing through the neocortex, bypass the glia limitans and invade the subarachnoid space. The resulting cortex is chaotically structured, consisting of an irregular lissencephalic surface and absence of lamination.

Cobblestone lissencephalies are often seen in association with additional features, such as eye malformations and congenital muscular dystrophy. Walker-Warburg syndrome (WWS, OMIM:236670), muscle-eye-brain (MEB, OMIM:253280), and Fukuyama congenital muscular dystrophy (FCMD, OMIM:253800) are the three major entities of this group. Patients are classified into . . . [Full text of this article]

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