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Article

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.

F1000Research - 1 Jan 2021

Semyachkina Alla Nikolaevna, Nikolaeva Ekaterina Alexandrovna, Galeeva Nailya Mansurovna, Polyakov Alexander Vladimirovich, Kurnikova Maria Andreevna, Belova Vera Аlexandrovna, Shulyakova Irina Valerievna, Dantsev Ilya Sergeevich, Dzhivanshiryan Goar Vladimirovna

Abstract excerpt

Background. This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic type 2 Ehlers-Danlos syndrome is an autosomal recessive disorder caused by mutations in the FKBP14 gene (7p14.3), which encodes the FKBP22 protein. According to the 2017 classification, this type is in group seven - collagen spatial structure and...

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PMID: 34504686
DOI: 10.12688/f1000research.52268.1
PMCID: PMC8408539

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