A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. Issue 5 (29th April 2005)

• Record Type: Journal Article
• Authors: Tukel, T; Uzumcu, A; Gezer, A; Kayserili, H; Yuksel-Apak, M; Uyguner, O; Gultekin, S H; Hennies, H-C; Nurnberg, P; Desnick, R J; Wollnik, B
• Is Part Of: Journal of medical genetics. Volume 42:Issue 5(2005)
• Page Start: 408
• Page End: 415
• Publication Date: 2005-04-29
• Subjects: CFEOM, congenital fibrosis of extraocular muscles -- CFEOM/U, congenital fibrosis of extraocular muscles with ulnar hand abnormalities -- DRRS, Duane radial ray syndrome -- SNP, single nucleotide polymorphism -- OD, right eye -- OS, left eye; CFEOM -- ulnar hand anomaly -- chromosome 21qter; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.026138
• Languages: English
• ISSNs: 1468-6244

Abstract

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 ∼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 α motor neurones, as well as anteroposterior limb development.