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.
- 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
- ulnar hand anomaly
- chromosome 21qter
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.