Genitopatellar Syndrome

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Xu, C. Genitopatellar Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/3991 (accessed on 29 September 2026).

Xu C. Genitopatellar Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/3991. Accessed September 29, 2026.

Xu, Camila. "Genitopatellar Syndrome" Encyclopedia, https://encyclopedia.pub/entry/3991 (accessed September 29, 2026).

Xu, C. (2020, December 23). Genitopatellar Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3991

Xu, Camila. "Genitopatellar Syndrome." Encyclopedia. Web. 23 December, 2020.

Genitopatellar Syndrome

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

Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.

genetic conditions

References

Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L.Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1Band TBX4. Am J Med Genet A. 2006 Jul 15;140(14):1567-72.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S,Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP,Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS,Majewski J, Lee BH. Mutations in KAT6B, encoding a histone acetyltransferase,cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi:10.1016/j.ajhg.2011.11.023.
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome havedistinct clinical features reflecting distinct molecular mechanisms. Hum Mutat.2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141.
Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M.Genitopatellar syndrome: a new condition comprising absent patellae, scrotalhypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J MedGenet. 2000 Jul;37(7):520-4.
Lemire G, Campeau PM, Lee BH. KAT6B Disorders. 2012 Dec 13 [updated 2020 Jan2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK114806/
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE,Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH,Reardon W, Brunner HG, Bongers EM, Trembath RC. De novo mutations of the geneencoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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