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Case Reports
. 2021 Aug;185(8):2572-2575.
doi: 10.1002/ajmg.a.62253. Epub 2021 May 11.

Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant

Diana Martín-García  1 , O Will Towler  2   3 , Meiqi Xu  2   3 , Osmany Alfonso-Hernández  1   4 , Paula R Oliveira  1 , Marleny Alonso-Clavo  1   5 , Eileen M Shore  2   3   6 , Frederick S Kaplan  2   3   7
Affiliations
Case Reports

Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1G328E variant

Diana Martín-García et al. Am J Med Genet A. 2021 Aug.

Abstract

Little is known about FOP in Africa and few cases of nonclassic fibrodysplasia ossificans progressiva (FOP) have been reported on the continent. Here we report a three-year-old girl from Angola with a nonclassic FOP clinical presentation that is characterized by complex malformations of the toes and fingers, reduction defects of the digits, absence of nails, progressive heterotopic ossification, and a confirmed heterozygous ACVR1 variant at c.983G > A. Emerging knowledge of FOP can serve as a catalyst for increasing awareness of FOP in under-represented medical communities by achieving a correct FOP diagnosis, improving access of individuals with FOP to clinical trial recruitment, and enhancing the ability of affected individuals to be part of and interact with the international FOP community.

Keywords: ACVR1; BMP pathway signaling; FOP variant; bone morphogenetic protein; fibrodysplasia ossificans progressiva; heterotopic ossification.

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References

REFERENCES

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