Opitz G/BBB Syndrome

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Xu, R. Opitz G/BBB Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4778 (accessed on 29 September 2026).

Xu R. Opitz G/BBB Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4778. Accessed September 29, 2026.

Xu, Rita. "Opitz G/BBB Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4778 (accessed September 29, 2026).

Xu, R. (2020, December 24). Opitz G/BBB Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4778

Xu, Rita. "Opitz G/BBB Syndrome." Encyclopedia. Web. 24 December, 2020.

Opitz G/BBB Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome

Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.

genetic conditions

References

De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R,Jawanda H, Ballabio A, Franco B, Meroni G. X-linked Opitz syndrome: novelmutations in the MID1 gene and redefinition of the clinical spectrum. Am J MedGenet A. 2003 Jul 15;120A(2):222-8. Review.
Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linkedOpitz G/BBB syndrome. Hum Mutat. 2008 May;29(5):584-94. doi: 10.1002/humu.20706.
Fryburg JS, Lin KY, Golden WL. Chromosome 22q11.2 deletion in a boy with Opitz(G/BBB) syndrome. Am J Med Genet. 1996 Mar 29;62(3):274-5.
Han X, Du H, Massiah MA. Detection and characterization of the in vitro e3ligase activity of the human MID1 protein. J Mol Biol. 2011 Apr 8;407(4):505-20. doi: 10.1016/j.jmb.2011.01.048.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, LiM, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J MedGenet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677.
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome dueto a 22q11.2 deletion. Am J Med Genet. 1995 Oct 23;59(1):103-13.
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, FeldmanGJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997Nov;17(3):285-91.
Robin NH, Opitz JM, Muenke M. Opitz G/BBB syndrome: clinical comparisons offamilies linked to Xp22 and 22q, and a review of the literature. Am J Med Genet. 1996 Mar 29;62(3):305-17.
Schweiger S, Schneider R. The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome. Bioessays. 2003 Apr;25(4):356-66. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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