Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 149A, Issue 3, Pages 336-342Publisher
WILEY
DOI: 10.1002/ajmg.a.32656
Keywords
ophthalmo-acromelic syndrome; linkage study; genetic locus; 10p11.23
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Funding
- Ministry of Health, Labour and Welfare
- SORST
- Scientific Research from the Ministry of Education, Sports, Science and Technology, Japan
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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. (C) 2009 Wiley-Liss, Inc.
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