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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Item Type:Article
Title:A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
Creators Name:Tukel, T. and Uzumcu, A. and Gezer, A. and Kayserili, H. and Yuksel-Apak, M. and Uyguner, O. and Gultekin, S.H. and Hennies, H.C. and Nuernberg, P. and Desnick, R.J. and Wollnik, B.
Abstract:BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. OBJECTIVE: To describe a new autosomal recessive syndrome of CFEOM and ulnar hand abnormalities, and localise the disease causing gene. METHODS: Clinical evaluation of the affected members and positional mapping. RESULTS: Six affected patients with CFEOM/U (aged 2 to 29 years) from a large consanguineous Turkish family were studied. Ophthalmological involvement was characterised by non-progressive restrictive ophthalmoplegia with blepharoptosis of the right eye. The postaxial oligodactyly/oligosyndactyly of the hands was more severe on the right side. A genome-wide scan established linkage of this new autosomal recessive syndrome to a locus on chromosome 21qter. The multipoint LOD score was 4.53 at microsatellite marker D21S1259, and fine mapping defined a approximately 1.5 Mb critical region between microsatellite marker D21S1897 and the telomere of the long arm. CONCLUSIONS: CFEOM/U maps to a 1.5 Mb region at chromosome 21qter. Future identification of the disease causing gene may provide insights into the development of the extraocular muscles and brain stem alpha motor neurones, as well as anteroposterior limb development.
Keywords:CFEOM, Ulnar Hand Anomaly, Chromosome 21qter
Source:Journal of Medical Genetics
Publisher:BMJ Publishing Group
Page Range:408-415
Date:May 2005
Additional Information:Erratum in: J Med Genet. vol 42, pg 862, 2005
Official Publication:https://doi.org/10.1136/jmg.2004.026138
PubMed:View item in PubMed

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