Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva
| Autor: | Marija Dimishkovska, Eileen M. Shore, Dijana Plaseska-Karanfilska, Velibor Tasic, Zoran Bozinovski, O. Will Towler, Zoran Gucev, Marko Kostovski, Momir Polenakovic, Frederick S. Kaplan, Alek Saveski, Nevenka Laban |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Adolescent 030105 genetics & heredity ACVR1 Delayed diagnosis Fingers 03 medical and health sciences Genetics medicine Humans Genetics (clinical) Exome sequencing integumentary system Both forearms business.industry medicine.disease Dermatology Activating mutation 030104 developmental biology medicine.anatomical_structure Myositis Ossificans Scalp Fibrodysplasia ossificans progressiva Mutation Female Heterotopic ossification business Activin Receptors Type I |
| Zdroj: | American Journal of Medical Genetics Part A. |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61153 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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