ORAL EXFOLIATIVE CYTOLOGY FOR THE NONINVASIVE DIAGNOSIS IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY PATIENTS AND CARRIERS

Emery-Dreifuss muscular dystrophy (EMD) is an inherited myopathy chara cterised by muscle contractures, progressive muscle wasting and weakne ss, with humeroperoneal distribution. Cardiac arrhythmia and heart con duction block are also important characteristics of this disease. The X-linked form of EMD is caused by the absence of emerin, encoded by th e STA gene (Xq28), Emerin is normally localised in muscle and other ti ssues at the nuclear rim. Currently, muscle and skin biopsies are used for the immunohistochemical diagnosis. We demonstrate that emerin is present in the cheek oral mucosa, in the exfoliating epithelial cells, and we propose the collection of these cells as a new method for the diagnosis of X-linked EMD patients and the detection of carriers by im munofluorescence techniques: smears from healthy subjects contained ab out 98% emerin-positive cells, those from X-linked EMD patients contai ned none and those from carriers contained about 45%. The technique is completely non-invasive, simple, repeatable and inexpensive. (C) 1998 Elsevier Science B.V.