Hamanoue Haruka, Megarbane Andre, Tohma Takaya, Nishimura Akira, Mizuguchi Takeshi, Saitsu Hirotomo, Sakai Haruya, Miura Shoko, Toda Tatsushi, Miyake Noriko, Niikawa Norio, Yoshiura Koichiro, Hirahara Fumiki, Matsumoto Naomichi
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656.
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.
眼-肢端综合征（OAS，OMIM编号：206920）是一种罕见的常染色体隐性疾病，临床表现为无眼畸形和肢体异常。我们招募了三个OAS家系，其中包括一个有两名患病患者的日本家系以及两个近亲结婚的黎巴嫩家系，每个黎巴嫩家系各有一名患病患者。使用50K SNP芯片和其他信息性标记进行纯合性定位。基于两个近亲结婚家系的结果以及日本非近亲结婚家系的一致数据，将OAS的一个基因座定位到10q11.23上422 kb的区域。该422 kb区域仅包含一个基因，即MPP7。尽管在分析的OAS家系中我们未检测到任何病理性突变，但MPP7仍可能是候选基因，因为可能存在超出我们突变检测方法范围的异常变化。需要更多家系来确认这个候选基因座。
