Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome

DOI Web Site 参考文献47件
  • Shoji Yasuko
    Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan Department of Epidemiology and Health Policy, University of Toyama, Toyama, Japan
  • Hata Ayaha
    Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Maeyama Takatoshi
    Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Wada Tamaki
    Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Hasegawa Yuiko
    Department of Genetics, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Nishi Eriko
    Department of Genetics, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Ida Shinobu
    Department of Clinical Laboratory, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Etani Yuri
    Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Niihori Tetsuya
    Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan
  • Aoki Yoko
    Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan
  • Okamoto Nobuhiko
    Department of Genetics, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Kawai Masanobu
    Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka, Japan

抄録

<p>Noonan syndrome (NS) is caused by pathogenic variants in genes encoding components of the RAS/MAPK pathway and presents with a number of symptoms, including characteristic facial features, congenital heart diseases, and short stature. Advances in genetic analyses have contributed to the identification of pathogenic genes in NS as well as genotype-phenotype relationships; however, updated evidence for the detection rate of pathogenic genes with the inclusion of newly identified genes is lacking in Japan. Accordingly, we examined the genetic background of 116 individuals clinically diagnosed with NS and the frequency of short stature. We also investigated genotype-phenotype relationships in the context of body mass index (BMI). Genetic testing revealed the responsible variants in 100 individuals (86%), where PTPN11 variants were the most prevalent (43%) and followed by SOS1 (12%) and RIT1 (9%). The frequency of short stature was the lowest in subjects possessing RIT1 variants. No genotype-phenotype relationships in BMI were observed among the genotypes. In conclusion, this study provides evidence for the detection rate of pathogenic genes and genotype-phenotype relationships in Japanese patients with NS, which will be of clinical importance for accelerating our understanding of the genetic backgrounds of Japanese patients with NS.</p>

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