Scientific Papers

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction | BMC Medical Genomics


  • Michael JC, Saltzman CL, Anderson RB, Mann RA. Hallux valgus. In: Mann’s Surgery of the Foot and Ankle. Philadelphia: Saunders/Elsevier; 2014.


    Google Scholar
     

  • Heller EP. Congenital bilateral hallux valgus. Ann Surg. 1928;88:798–800. https://doi.org/10.1097/00000658-192810000-00014. PMCID: PMC1398603.PMID: 17865988.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Lieberson S, Mendes DG. Congenital hallux valgus. Orthopedics. 1991;14(5):588–94. https://doi.org/10.3928/0147-7447-19910501-14. PMID: 2062736.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev. 2013;10 Suppl 2(0 2):437–48.

    PubMed 

    Google Scholar
     

  • Genome Aggregation Database (gnomAD). http://gnomad.broadinstitute.org. Accessed: May 2022.

  • Akesson LS, Savarirayan R. Fibrodysplasia Ossificans Progressiva. 2020 Jun 11. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK558090/

  • Palhares, Durval & Leme, Lígia. Miosite ossificante progressiva: uma perspectiva no controle da doença. Jornal De Pediatria – J PEDIATR. 2011;77.https://doi.org/10.1590/S0021-75572001000500016.

  • Rothschild BM, Martin LD, Timm RM. A new spontaneous model of fibrodysplasia ossificans progressive. Brazi Geograph J Geosci Hum Res Medium. 2010;1:228–37.


    Google Scholar
     

  • Delai PLR, Kantanie S, Santili C, Kaplan FS. Fibrodisplasia ossificante progressiva: uma doença hereditária de interesse multidisciplinar. Rev Bras Ortop. 2004;39:205–13.


    Google Scholar
     

  • Focusonfop.Ipsen 2023. ALL-ALL-002297 Available on: https://www.focusonfop.com/. Accessed 27 Dec 2023.

  • Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008;121(5):e1295–300. https://doi.org/10.1542/peds.2007-1980. PMID: 18450872; PMCID: PMC3502043.

    Article 
    PubMed 

    Google Scholar
     

  • Maftei Catalina, Rypens Françoise, Thiffault Isabelle, Dubé Johanne, Laberge Anne-Marie, Lemyre Emmanuelle. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature. Prenatal Diagnosis. 2015;35(3):305–7. https://doi.org/10.1002/pd.4518.

    Article 
    PubMed 

    Google Scholar
     

  • International FOP Association available on https://ifopa.org. Accessed 27 Dec 2023.

  • FOP Friends available on https://www.fopfriends.com/. Accessed 27 Dec 2023.

  • Gomez-Puerto MC, Iyengar PV, Garcia de Vinuesa A, Ten Dijke P, Sanchez-Duffhues G. Bone morphogenetic protein receptor signal transduction in human diseases. J Pathol. 2018;247(1):9–20. https://doi.org/10.1002/path.5170.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Wagner DO, Sieber C, Bhushan R, Borgermann JH, Graf D, Knaus P. BMPs: From bone to body morphogenetic proteins. Sci Signal. 2010;3(107):mr1. https://doi.org/10.1126/scisignal.3107mr1.

    Article 
    PubMed 

    Google Scholar
     

  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research. 1988;16(3):1215. https://doi.org/10.1093/nar/16.3.1215.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Sanchez-Duffhues G, Williams E, Goumans MJ, Heldin CH, ten Dijke P. Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors. Bone. 2020;138:115472. https://doi.org/10.1016/j.bone.2020.115472.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Chida A, Shintani M, Nakayama T, Furutani Y, Hayama E, Inai K, Saji T, Nonoyama S, Nakanishi T. Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension. Circ J. 2012;76(6):1501–8. https://doi.org/10.1253/circj.cj-11-1281.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Lhousni S, Charif M, Derouich Y, Elidrissi Errahhali M, Elidrissi Errahhali M, Ouarzane M, Lenaers G, Boulouiz R, Belahcen M, Bellaoui M. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: expanding the phenotypic and mutational spectrum of acromesomelic dysplasias. Bone. 2023;175:116860. https://doi.org/10.1016/j.bone.2023.116860.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Yoon BS, Ovchinnikov DA, Yoshii I, Behringer RR, Lyons KM. BMPR1a and BMPR1b have overlapping functions and are essential for chondrogenesis in vivo. Proc Natl Acad Sci USA. 2005;102(14):5062–7. https://doi.org/10.1073/pnas.0500031102.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Towler OW, Shore EM, Xu M, Bamford A, Anderson I, Pignolo RJ, Kaplan FS. The congenital great toe malformation of fibrodysplasia ossificans progressiva? – A close call. Eur J Med Genet. 2017;60(7):399–402. https://doi.org/10.1016/j.ejmg.2017.04.013.

    Article 
    PubMed 

    Google Scholar
     

  • Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet. 2005;42(4):314–7. https://doi.org/10.1136/jmg.2004.023564. PMID: 15805157; PMCID: PMC1736042.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A. BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. Mol Genet Genomic Med. 2021;9(3):e1594. https://doi.org/10.1002/mgg3.1594. Epub 2021 Jan 24. PMID: 33486847; PMCID: PMC8104157.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Alamut Visual 2.11 (Interactive Biosoftware, Rouen, France) https://www.bioz.com/result/alamut%20visual%20software%20version%202%2011/product/Interactive%20Biosoftware

  • Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A. 2003;100(21):12277–82. https://doi.org/10.1073/pnas.2133476100. Epub 2003 Oct 1. PMID: 14523231; PMCID: PMC218749.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S. A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. Eur J Hum Genet. 2006;14(12):1248–54. https://doi.org/10.1038/sj.ejhg.5201708. Epub 2006 Sep 6 PMID: 16957682.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K. Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly. Birth Defects Res A Clin Mol Teratol. 2015;103(6):567–72. https://doi.org/10.1002/bdra.23354. Epub 2015 Mar 16 PMID: 25776145.

    Article 
    CAS 
    PubMed 

    Google Scholar
     

  • Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet. 2016;99(4):877–85. https://doi.org/10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22. PMID: 27666373; PMCID: PMC5065685.

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     



  • Source link