Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome
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- Shoji Yasuko
- Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi, Osaka 594-1101, Japan
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- Ida Shinobu
- Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi, Osaka 594-1101, Japan
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- Niihori Tetsuya
- Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi 980-8574, Japan
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- Aoki Yoko
- Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi 980-8574, Japan
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- Okamoto Nobuhiko
- Department of Genetics, Osaka Women’s and Children’s Hospital, Izumi, Osaka 594-1101, Japan
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- Etani Yuri
- Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi, Osaka 594-1101, Japan
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- Kawai Masanobu
- Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Izumi, Osaka 594-1101, Japan Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Izumi, Osaka 594-1101, Japan
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抄録
<p>Noonan syndrome (NS) is a heterogeneous disorder with multiple congenital malformations. Recent advances in molecular and genetic approaches have identified a number of responsible genes for NS, most of which are components of the RAS/MAPK signaling pathway, and genotype-phenotype correlation analyses have been extensively performed; however, analysis of Japanese NS patients is limited. Here, we evaluated clinical characteristics in genetically diagnosed NS patients and their relationships to genotypes. A total of 48 clinically diagnosed NS were included, and responsible mutations were identified in 39 patients (81.3%) with PTPN11 mutations being the most prevalent followed by SOS1 mutations. Cardiac anomalies including pulmonary stenosis and hypertrophic cardiomyopathy were most prevalent (87.2%), and the prevalence of hypertrophic cardiomyopathy was greater in patients without PTPN11 mutations than in those with PTPN11 mutations. Short stature was the second-most prevalent (69.2%) characteristic, and present height SD score was significantly associated with height SD score at 1 year old. Patients with SOS1 mutations had greater present height SD score and better growth during infancy. These findings suggest the presence of a genotype-phenotype correlation in Japanese patients with NS, which enables us to use genetic information to predict the clinical course and may allow for genotype-based medical interventions.</p>
収録刊行物
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- Endocrine Journal
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Endocrine Journal 66 (11), 983-994, 2019
一般社団法人 日本内分泌学会