Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.

Autor: Gucev Z; Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia., Tasic V; Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia., Plaseska-Karanfilska D; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia., Dimishkovska M; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia., Laban N; Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia., Bozinovski Z; Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia., Kostovski M; Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia., Saveski A; Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia., Polenakovic M; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia., Towler OW; Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania., Shore EM; Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Genetics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania., Kaplan FS; Department of Orthopaedic Surgery, Center for Research in FOP & Related Disorders, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Medicine, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1310-1314. Date of Electronic Publication: 2019 Apr 22.
DOI: 10.1002/ajmg.a.61153
Abstrakt: A 16-year-old girl with a history of nontraumatic swelling of both forearms, osteochondromas of the knees, heterotopic ossification of the neck and back, severe malformations of all digits with hypoplastic or absent nails, alopecia partialis of the scalp, and moderate cognitive impairment was seen for diagnostic evaluation. Whole exome sequencing identified an activating mutation of ACVR1 (c.983G > A; p.Gly328Glu) which confirmed a suspected FOP variant. The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification.
(© 2019 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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