A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia

Rafati, Maryam; Mohamadhashem, Faezeh; Hoseini, Azadeh; Hoseininasab, Fatemeh; Ghaffari, Saeed Reza

doi:10.1016/j.ejmg.2016.05.007

Cited by 10 publications

(3 citation statements)

References 15 publications

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“…It has been estimated that the R206H mutation contributes to more than 95% of FOP patients [20,24]. The remaining cases can be attributed to atypical ACVR1 mutations, including L196P [41,42], P197_F198delinsL [24], R202I [43,44], Q207E [24], F246Y [45], R258S [28,31,33,35,46], R258G [16], G325A [47], G328E [24,34,43,48], G328R [24], G328W [24], G356D [24,33,49], and R375P [24].…”

Section: Fibrodysplasia Ossificans Progressivamentioning

confidence: 99%

ACVR1 Function in Health and Disease

Valer

Sánchez-de-Diego

Pimenta-Lopes

et al. 2019

Cells

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Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation. Moreover, ACVR1 has been extensively studied for its causal role in fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterised by progressive heterotopic ossification. ACVR1 is linked to different pathologies, including cardiac malformations and alterations in the reproductive system. More recently, ACVR1 has been experimentally validated as a cancer driver gene in diffuse intrinsic pontine glioma (DIPG), a malignant childhood brainstem glioma, and its function is being studied in other cancer types. Here, we review ACVR1 receptor function and signalling in physiological and pathological processes and its regulation according to cell type and mutational status. Learning from different functions and alterations linked to ACVR1 is a key step in the development of interdisciplinary research towards the identification of novel treatments for these pathologies.

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Section: Fibrodysplasia Ossificans Progressivamentioning

confidence: 99%

ACVR1 Function in Health and Disease

Valer

Sánchez-de-Diego

Pimenta-Lopes

et al. 2019

Cells

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“…Activin A receptor type 1 ( ACVR1 , HGNC: 171), also named as ALK2 , is a bone morphogenetic protein (BMP) type I receptor and an important member of the BMP signaling pathway (Wang et al, 2018). Fibrodysplasia ossificans progressiva (FOP) is the most known ACVR1 ‐related disorder (Rafati et al, 2016). In addition, it has been reported that ACVR1 not only functions in BMP signaling pathway, but also Wnt signaling pathway and plays critical roles in many diseases including breast cancer (Wang et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

A competing endogenous RNA network reveals key lncRNAs associated with sepsis

Guo

Qin

Wang

et al. 2020

Molec Gen & Gen Med

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“…Single gene detection allows rapid and accurate diagnosis of patients with FOP before the onset of HO. Without a clear goal or obvious disease phenotype, whole genome sequencing or whole-exome sequencing (WES) is an effective means of reducing the trauma caused by a biopsy, improving the accuracy of diagnosis, avoiding a tedious physical examination, and it also equally helps to identify other rare diseases like FOP (20,21).…”

Section: Existing and Potential Treatmentsmentioning

confidence: 99%