A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
| العنوان: | A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3 |
|---|---|
| المؤلفون: | Thuresson, Ann-Charlotte, Croft, Brittany, Hailer, Yasmin D., 1972, Liminga, Gunnar, Arvidsson, Carl-Göran, Harley, Vincent R, Stattin, Evalena |
| المصدر: | Clinical Genetics. 99(2):325-329 |
| مصطلحات موضوعية: | FGF9, Multiple synostosis syndrome, SYNS, fusion of interphalangeal joints |
| الوصف: | Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C>G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously. |
| وصف الملف: | electronic |
| URL الوصول: | https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428638 https://doi.org/10.1111/cge.13880 https://uu.diva-portal.org/smash/get/diva2:1510095/FULLTEXT01.pdf |
| قاعدة البيانات: | SwePub |
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