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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23
American Journal of Medical Genetics, Part A, Volume 149, No. 3, Year 2009
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Description
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.
Authors & Co-Authors
Hamanoue, Haruka
Japan, Yokohama
Graduate School of Medicine
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Tohma, Takaya
Japan, Osaka
Child. Med. Cent.
Nishimura, Akira
Japan, Yokohama
Graduate School of Medicine
Mizuguchi, Takeshi
Japan, Yokohama
Graduate School of Medicine
Saitsu, Hirotomo
Japan, Yokohama
Graduate School of Medicine
Sakai, Haruya
Japan, Yokohama
Graduate School of Medicine
Miura, Shoko
Japan, Nagasaki
Graduate School of Biomedical Sciences
Toda, Tatsushi
Japan, Suita
Graduate School of Medicine
Miyake, Noriko
Japan, Yokohama
Graduate School of Medicine
Niikawa ., Norio
Japan, Nagasaki
Graduate School of Biomedical Sciences
Yoshiura, Kohichiro
Japan, Nagasaki
Graduate School of Biomedical Sciences
Hirahara, Fumiki
Japan, Yokohama
Graduate School of Medicine
Matsumoto, Naomichi
Japan, Yokohama
Graduate School of Medicine
Statistics
Citations: 14
Authors: 14
Affiliations: 5
Identifiers
Doi:
10.1002/ajmg.a.32656
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics