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Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-11-02 , DOI: 10.1111/cge.13876
Lucia Sentchordi-Montané 1, 2, 3, 4 , Francisca Diaz-Gonzalez 1, 2 , Elena V Cátedra-Vallés 5 , Karen E Heath 1, 2, 3, 6
Affiliation  

Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, characterized with hand and feet joint synostosis and fusion of the elbow and vertebral lumbar joints. Craniosynostosis was also observed in one family. Here, we report the clinical and radiological description of a young girl with a third heterozygous FGF9 variant, NM_002010.2:c.427A>T;p.(Asn143Tyr), which interestingly, is located at the same amino acid as the well characterized spontaneous Eks mouse variant. We also compare the genotype: phenotypes observed between humans and mice with SYNS.

中文翻译:

多发性关节病女孩的第三个 FGF9 变异体的鉴定——基因型比较:人类和小鼠 FGF9 变异体的表型

多发性关节综合征 (SYNS) 是一组异质性遗传疾病,主要特征是由于NOGGDF5FGF9GDF6 的变异引起的多关节性关节病。迄今为止,只有两个FGF9变体与 SYNS 相关,其特征在于手足关节的接合以及肘部和腰椎关节的融合。在一个家庭中也观察到颅缝早闭。在这里,我们报告了一个年轻女孩的临床和放射学描述,该女孩具有第三个杂合FGF9变体 NM_002010.2:c.427A>T;p.(Asn143Tyr),有趣的是,它与已充分表征的氨基酸位于相同的氨基酸自发的Eks鼠标变体。我们还比较了基因型:在人类和小鼠之间观察到的 SYNS 表型。
更新日期:2020-11-02
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