Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-03-17

AUTHORS

Hirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, Sumito Dateki, Koji Muroya, Reiko Horikawa, Junko Kanno, Masanori Adachi, Yasuhiro Naiki, Hiroyuki Tanaka, Hiroyo Mabe, Hideaki Yagasaki, Shigeo Kure, Yoichi Matsubara, Toshihiro Tajima, Kenichi Kashimada, Tomohiro Ishii, Yumi Asakura, Ikuma Fujiwara, Shun Soneda, Keisuke Nagasaki, Takashi Hamajima, Susumu Kanzaki, Tomoko Jinno, Tsutomu Ogata, Maki Fukami

ABSTRACT

The etiology of idiopathic short stature (ISS) and Leri–Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA elements (CNEs) flanking the gene. However, the frequency and types of SHOX abnormalities in non-European patients and the clinical importance of mutations in the CNEs remains to be clarified. Here, we performed systematic molecular analyses of SHOX for 328 Japanese patients with ISS or LWD. SHOX abnormalities accounted for 3.8% of ISS and 50% of LWD cases. CNVs around SHOX were identified in 16 cases, although the ~47 kb deletion frequently reported in European patients was absent in our cases. Probably damaging mutations and benign/silent substitutions were detected in four cases, respectively. Although CNE-linked substitutions were detected in 15 cases, most of them affected poorly conserved nucleotides and were shared by unaffected individuals. These results suggest that the frequency and mutation spectrum of SHOX abnormalities are comparable between Asian and European patients, with the exception of a European-specific downstream deletion. Furthermore, this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs. More... »

PAGES

585-591

Journal

TITLE

Journal of Human Genetics

ISSUE

7

VOLUME

61

Author Affiliations

  • Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo, Japan
  • Tanaka Growth Clinic, Tokyo, Japan
  • Department of Pediatrics, Shizuoka City Shimizu Hospital, Shizuoka, Japan
  • Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
  • Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan
  • Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan
  • Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
  • Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan
  • Department of Child Development, Kumamoto University Hospital, Kumamoto, Japan
  • Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan
  • National Research Institute for Child Health and Development, Tokyo, Japan
  • 22Current address: Jichi Medical University, Shimotsuke, Japan.
  • Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan
  • Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
  • Environment and Genome Research Center, Tohoku University Graduate School of Medicine, Sendai, Japan
  • Department of Pediatrics, St Marianna University School of Medicine, Kawasaki, Japan
  • Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
  • Division of Endocrinology and Metabolism, Aichi Children’s Health and Medical Center, Obu, Japan
  • Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Japan
  • Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
  • Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/jhg.2016.18

    DOI

    http://dx.doi.org/10.1038/jhg.2016.18

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002672512

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26984564


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