Bohring-Opitz Syndrome for the Purpose of a Case and  Review of the Topic

Daniela Alejandra Tolosa Quintero; Carolina Rivera Nieto; Juan Sebasti#xE1;n Leguizam#xF3;n Melo

Authors

Daniela Alejandra Tolosa Quintero
Carolina Rivera Nieto
Juan Sebasti#xE1;n Leguizam#xF3;n Melo

Keywords:

Bohring Opitz Syndrome, ASXL1, HOX genes, BOPS

Abstract

The Bohring-Opitz syndrome (BOPS) was first described in 1999 by Bohring et al (1). It is an extremely rare genetic condition, of unknown prevalence, which is caused by de novo or nonsense mutations in the ASXL1 gene. To date 46 people with BOPS have been described, of whom only 20 have a confirmed molecular diagnosis. The BOPS diagnosis is established by clinical suspicion and / or identification of a constitutional heterozygous pathogenic variant in the ASXL1 gene (2). This article shows the first case in Latin America of BOPS confirmed by molecular diagnosis.

Downloads

How to Cite

Bohring-Opitz Syndrome for the Purpose of a Case and Review of the Topic. (2019). Global Journal of Medical Research, 19(F2), 7-11. https://medicalresearchjournal.org/index.php/GJMR/article/view/1704

Download Citation

References

Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjaergaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth Mcgowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter Turnpenny, Bregje Van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob (2010) Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. 19(5), 513-519.

B Russell, W-H Tan, J Graham (2018) Bohring-Opitz Syndrome.

A Hoischen, Bwm Van Bon, B Rodríguez-Santiago, C Gilissen, Lelm Vissers, P De Vries (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 43(8), 729-731.

Silvana Dangiolo, Ashley Wilson, Vaidehi Jobanputra, Kwame Anyane‐yeboa (2015) Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. 167(12), 3161-3166.

Pamela Magini, Matteo Monica, Maria Uzielli, Patrizia Mongelli, Gloria Scarselli, Eleonora Gambineri, Gioacchino Scarano, Marco Seri (2012) Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 158A(4), 917-921.

G Gillessen-Kaesbach, Bohring -Opitz (2014) Oberklaid -Danks) syndrome : Clinical study, review of the literature , and discussion of possible pathogenesis.

G Oudesluijs, D Grange, A Bohring, G Zampino, P Thierry (2006) New Cases of Bohring -Opitz Syndrome, Update, and Critical Review of the Literature. 1263, 1257-1263.

Tjitske Kleefstra, Annette Schenck, Jamie Kramer, Hans Van Bokhoven (2014) The genetics of cognitive epigenetics. 80, 83-94.

Arh Simpson, Cea Gibbon, A G Quinn, P Turnpenny (2007) Infantile high myopia in Bohring-Opitz syndrome. 11(5), 524-525.

B Russell, J J Johnston, L Biesecker, N Kramer, A Pickart, W Rhead (2015) Clinical Management of Patients with ASXL1 Mutations and Bohring -Opitz Syndrome , Emphasizing the Need for Wilms Tumor Surveillance. 2122-2131.

M-Y Sheng, Y Zhou, M-J Xu, F-C Yang (2014) Role of ASXL1 mutation in myeloid malignancies. (4), 1183-1187.

Colleen Carlston, Anne O'donnell-Luria, Hunter Underhill, Beryl Cummings, Ben Weisburd, Eric Minikel, Daniel Birnbaum, Tatiana Tvrdik, Daniel Macarthur, Rong Mao (2017) Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. 38(5), 517-523.