Human Molecular Genetics, 1999, Vol. 8, No. 9 1785-1789
© 1999 Oxford University Press
A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies
Génétique Moléculaire et Physiopathologie, INSERM U468 et Laboratoire de Biochimie et Génétique Moléculaire, AP-HP, Hôpital Henri Mondor, 94010 Créteil Cedex, France, 1Zentrum für Molekulare Neurobiologie, Universität Hamburg, Martinistraße 52, 20246 Hamburg, Germany, 2Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, 3 Blegdamsvej, DK-2200 Copenhagen, Denmark,3Center for Disabled Children, The Eye Clinic, Copenhagen, Gentofte, Denmark, 4Department of Pediatrics and Clinical Genetics, AMC, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands and 5University Department of Medical Genetics, St Mary’s Hospital, Manchester M13 0JH, UK
The Yemenite deaf-blind hypopigmentation syndrome was first observed in a Yemenite sister and brother showing cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. A second case, observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma, was reported as a mild form of this syndrome. Here we show that a SOX10 missense mutation is responsible for the mild form, resulting in a loss of DNA binding of this transcription factor. In contrast, no SOX10 alteration could be found in the other, severe case of the Yemenite deaf-blind hypopigmentation syndrome. Based on genetic, clinical, molecular and functional data, we suggest that these two cases represent two different syndromes. Moreover, as mutations of the SOX10 transcription factor were previously described in Waardenburg–Hirschsprung disease, these results show that SOX10 mutations cause various types of neurocristopathy.
+ To whom correspondence should be addressed. Tel: +33 1 49 81 28 61; Fax: +33 1 49 81 22 19; Email: goossens{at}im3.inserm.fr
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