How to cite this article: Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. 2009. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet Part A 149A:336–342.
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23†
Article first published online: 10 FEB 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 3, pages 336–342, March 2009
How to Cite
Hamanoue, H., Megarbane, A., Tohma, T., Nishimura, A., Mizuguchi, T., Saitsu, H., Sakai, H., Miura, S., Toda, T., Miyake, N., Niikawa, N., Yoshiura, K., Hirahara, F. and Matsumoto, N. (2009), A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am. J. Med. Genet., 149A: 336–342. doi: 10.1002/ajmg.a.32656
- Issue published online: 24 FEB 2009
- Article first published online: 10 FEB 2009
- Manuscript Accepted: 10 OCT 2008
- Manuscript Received: 29 JUL 2008
- Ministry of Health, Labour and Welfare
- Scientific Research from the Ministry of Education, Sports, Science and Technology, Japan
- ophthalmo-acromelic syndrome;
- linkage study;
- genetic locus;
Ophthalmo-acromelic syndrome (OAS, OMIM %206920) is a rare autosomal recessive disease, presenting with clinical anophthalmia and limb anomalies. We recruited three OAS families including a Japanese family with two affected patients and two consanguineous Lebanese families each having an affected. Homozygosity mapping was performed using the 50K SNP chip and additional informative markers. A locus for OAS was mapped to the 422-kb region at 10q11.23, based on the results from the two consanguineous families as well as the consistent data from the Japanese non-consanguineous family. The 422-kb region only contained one gene, MPP7. Although we could not detect any pathological mutations in OAS families analyzed, MPP7 could remain a candidate as aberrant changes might exist beyond our mutation detection methods. Further families are needed to confirm this candidate locus. © 2009 Wiley-Liss, Inc.