期刊
JOURNAL OF HUMAN GENETICS
卷 58, 期 6, 页码 391-394出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2013.25
关键词
exome sequencing; INPPL1; opsismodysplasia
资金
- Ministry of Health, Labor and Welfare [23300101, 23300201]
- Japan Society for the Promotion of Science [23689052, 12020465]
- Research on intractable diseases, Health and Labour Sciences Research Grants [H23-Nanchi-Ippan-123]
- Japan Science and Technology Agency, the Strategic Research Program for Brain Sciences [11105137]
- Ministry of Education, Culture, Sports, Science and Technology of Japan [12024421]
- Takeda Science Foundation
- Grants-in-Aid for Scientific Research [23300201, 24118005, 24118001, 23689052, 23300101] Funding Source: KAKEN
Opsismodysplasia is an autosomal recessive skeletal disorder characterized by facial dysmorphism, micromelia, platyspondyly and retarded bone maturation. Recently, mutations in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1) are found in several families with opsismodysplasia by a homozygosity mapping, followed by whole genome sequencing. We performed an exome sequencing in two unrelated Japanese families with opsismodysplasia and identified a novel INPPL1 mutation, c.1960_1962delGAG, in one family. The mutation is predicted to result in an in-frame deletion (p.E654del) within the central catalytic 5-phosphate domain. Our results further support that INPPL1 is the disease gene for opsismodysplasia and that opsismodysplasia has genetic heterogeneity.
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