Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

  • J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25.
Aritoshi Iida  1 ,  Nobuhiko Okamoto ,  Noriko Miyake ,  Gen Nishimura ,  Satoshi Minami ,  Takuya Sugimoto ,  Mitsuko Nakashima ,  Yoshinori Tsurusaki ,  Hirotomo Saitsu ,  Masaaki Shiina ,  Kazuhiro Ogata ,  Shigehiko Watanabe ,  Hirofumi Ohashi ,  Naomichi Matsumoto ,  Shiro Ikegawa
Affiliations
  • 1. Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
PMID: 23552673 DOI: 10.1038/jhg.2013.25
Abstract

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.