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Human Molecular Genetics, 2002, Vol. 11, No. 23 2979-2987
© 2002 Oxford University Press

Okihiro syndrome is caused by SALL4 mutations

Jürgen Kohlhase1,*, Marielle Heinrich1, Lucia Schubert1, Manuela Liebers1, Andreas Kispert2, Franco Laccone1, Peter Turnpenny3, Robin M. Winter4 and William Reardon5

1Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany, 2Institut für Molekularbiologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625 Hannover, Germany, 3Clinical Genetics, Royal Devon and Exeter Hospital, Barrack Rd, Exeter, 4Dept Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK and 5National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland

Received July 26, 2002; Accepted September 11, 2002

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt–Oram syndrome, a condition resulting from mutation of the TBX5 locus and Townes–Brocks syndrome, known to be caused by mutations in the SALL1 gene. Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes–Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family. We have characterized the human SALL4 gene on chromosome 20q13.13–q13.2. Moreover, we have identified literature reports of forelimb malformations in patients with cytogenetically identifiable abnormalities of this region. We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype.

* To whom correspondence should be addressed at: Institute for Human Genetics, University of Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. Email: jkohlha{at}gwdg.de


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