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NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
Human Genome Variation Pub Date : 2021-02-02 , DOI: 10.1038/s41439-021-00137-x
Satoshi Tamaoka 1 , Erina Suzuki 1 , Atsushi Hattori 1 , Tsutomu Ogata 2 , Maki Fukami 1 , Yuko Katoh-Fukui 1
Affiliation  

Although NDNF was recently reported as a novel causative gene for congenital hypogonadotropic hypogonadism (CHH), this conclusion has yet to be validated. In this study, we sequenced NDNF in 61 Japanese CHH patients. No variants, except for nine synonymous substitutions that appear to have no effect on splice-site recognition, were identified in NDNF coding exons or flanking intronic sequences. These results indicate the rarity of NDNF variants in CHH patients and highlight the genetic heterogeneity of CHH.



中文翻译:

NDNF 变异在先天性低促性腺激素性腺功能减退症患者中很少见

尽管NDNF最近被报道为先天性低促性腺激素性性腺功能减退症 (CHH) 的新致病基因,但这一结论尚未得到证实。在这项研究中,我们对 61 名日本 CHH 患者的NDNF进行了测序。在NDNF编码外显子或侧翼内含子序列中,除了 9 个似乎对剪接位点识别没有影响的同义替换外,没有发现任何变体。这些结果表明NDNF变异在 CHH 患者中的罕见性,并突出了 CHH 的遗传异质性。

更新日期:2021-02-02
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