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

IF 1 Q4 ENDOCRINOLOGY & METABOLISM
Clinical Pediatric Endocrinology Pub Date : 2024-01-01 Epub Date: 2024-02-26 DOI:10.1297/cpe.2024-0005
Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kawai
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引用次数: 0

Abstract

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.

116 名日本努南综合征患者人体测量参数的遗传背景和基因型-表型关系。
努南综合征(NS)是由编码 RAS/MAPK 通路成分的基因中的致病变异引起的,表现出一系列症状,包括特征性面部特征、先天性心脏病和身材矮小。基因分析技术的进步有助于确定 NS 的致病基因以及基因型与表型之间的关系;然而,在日本,随着新发现基因的加入,致病基因的检出率缺乏最新证据。因此,我们研究了 116 名临床诊断为 NS 的患者的遗传背景以及身材矮小的频率。我们还结合体重指数(BMI)调查了基因型与表型之间的关系。基因检测发现了100人(86%)的致病变体,其中PTPN11变体最普遍(43%),其次是SOS1(12%)和RIT1(9%)。拥有 RIT1 变体的受试者身材矮小的频率最低。各基因型之间在体重指数方面没有发现基因型与表型之间的关系。总之,本研究为日本 NS 患者中致病基因的检出率以及基因型与表型之间的关系提供了证据,这对加速我们了解日本 NS 患者的遗传背景具有重要的临床意义。
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来源期刊
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.40
自引率
7.10%
发文量
34
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