A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
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.
Tukel
T
T
Department of Human Genetics, Mount Sinai School of Medicine of New York University, USA [corrected]
Uzumcu
A
A
Gezer
A
A
Kayserili
H
H
Yuksel-Apak
M
M
Uyguner
O
O
Gultekin
S H
SH
Hennies
H-C
HC
Nurnberg
P
P
Desnick
R J
RJ
Wollnik
B
B
D000328:Adult; D002675:Child, Preschool; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D005260:Female; D005355:Fibrosis; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000473:pathology; D009801:Oculomotor Muscles / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome; D014421:Turkey / Q000208:ethnology; D014457:Ulna / Q000002:abnormalities*