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

T. Tukel, A. Uzumcu, A. Gezer, H. Kayserili, M. Yuksel Apak, O. Uyguner, S. H. Gultekin, H. C. Hennies, P. Nurnberg, Robert J. Desnick, Bernd Wollnik

Research output: Contribution to journalArticle

12 Citations (Scopus)

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 a motor neurones, as well as anteroposterior limb development.

LanguageEnglish
Pages408-415
Number of pages8
JournalJournal of Medical Genetics
Volume42
Issue number5
Early online date29 Apr 2005
DOIs
Publication statusPublished - May 2005
Externally publishedYes

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Chromosomes
Hand
Microsatellite Repeats
Oculomotor Muscles
Blepharoptosis
Ophthalmoplegia
Telomere
Motor Neurons
Genes
Brain Stem
Tukel syndrome
Congenital Fibrosis of the Extraocular Muscles
Arm
Extremities
Genome

Cite this

Tukel, T., Uzumcu, A., Gezer, A., Kayserili, H., Apak, M. Y., Uyguner, O., ... Wollnik, B. (2005). A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. Journal of Medical Genetics, 42(5), 408-415. https://doi.org/10.1136/jmg.2004.026138
Tukel, T. ; Uzumcu, A. ; Gezer, A. ; Kayserili, H. ; Apak, M. Yuksel ; Uyguner, O. ; Gultekin, S. H. ; Hennies, H. C. ; Nurnberg, P. ; Desnick, Robert J. ; Wollnik, Bernd. / A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. In: Journal of Medical Genetics. 2005 ; Vol. 42, No. 5. pp. 408-415.
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Tukel, T, Uzumcu, A, Gezer, A, Kayserili, H, Apak, MY, Uyguner, O, Gultekin, SH, Hennies, HC, Nurnberg, P, Desnick, RJ & Wollnik, B 2005, 'A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter', Journal of Medical Genetics, vol. 42, no. 5, pp. 408-415. https://doi.org/10.1136/jmg.2004.026138

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. / Tukel, T.; Uzumcu, A.; Gezer, A.; Kayserili, H.; Apak, M. Yuksel; Uyguner, O.; Gultekin, S. H.; Hennies, H. C.; Nurnberg, P.; Desnick, Robert J.; Wollnik, Bernd.

In: Journal of Medical Genetics, Vol. 42, No. 5, 05.2005, p. 408-415.

Research output: Contribution to journalArticle

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T1 - A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

AU - Tukel, T.

AU - Uzumcu, A.

AU - Gezer, A.

AU - Kayserili, H.

AU - Apak, M. Yuksel

AU - Uyguner, O.

AU - Gultekin, S. H.

AU - Hennies, H. C.

AU - Nurnberg, P.

AU - Desnick, Robert J.

AU - Wollnik, Bernd

PY - 2005/5

Y1 - 2005/5

N2 - 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 a motor neurones, as well as anteroposterior limb development.

AB - 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 a motor neurones, as well as anteroposterior limb development.

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