Tukel, T.T.TukelUzumcu, AbdullahAbdullahUzumcuGezer, AAGezerKayserili, HülyaHülyaKayseriliApak, M. Y.M. Y.ApakUyguner, OyaOyaUygunerGultekin, SHSHGultekinHennies, Hans C.Hans C.HenniesNürnberg, PeterPeterNürnbergDesnick, RJRJDesnickWollnik, BerndBerndWollnik2017-09-072017-09-072005https://resolver.sub.uni-goettingen.de/purl?gro-2/1420Background: 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 similar to 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 a motor neurones, as well as anteroposterior limb development.journal_article10.1136/jmg.2004.026138158636700002288062000063143860