Genitopatellar syndrome

Common Name(s)

Genitopatellar syndrome

Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by {10:Penttinen et al., 2009}). The SBBYS variant of Ohdo syndrome ({603736}) is an allelic disorder with overlapping features.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Genitopatellar syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Genitopatellar syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
 

Author(s): Michael A Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E L M Vissers, Wesley J Woollard, Susan E Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M White, Ruthy Cohen-Snuijf, Sarina G Kant, Lies H Hoefsloot, Willie Reardon, Han G Brunner, Ernie M H F Bongers, Richard C Trembath

Journal: Am. J. Hum. Genet.. 2012 Feb;90(2):290-4.

 

Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability. Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS; a single ...

Last Updated: 13 Feb 2012

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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
 

Author(s): Philippe M Campeau, Jaeseung C Kim, James T Lu, Jeremy A Schwartzentruber, Omar A Abdul-Rahman, Silke Schlaubitz, David M Murdock, Ming-Ming Jiang, Edward J Lammer, Gregory M Enns, William J Rhead, Jon Rowland, Stephen P Robertson, Valérie Cormier-Daire, Matthew N Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A Gibbs, David S Rosenblatt, Jacek Majewski, Brendan H Lee

Journal: Am. J. Hum. Genet.. 2012 Feb;90(2):282-9.

 

Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 ...

Last Updated: 13 Feb 2012

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Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature.
 

Author(s): L Armstrong, J T R Clarke

Journal: J. Med. Genet.. 2002 Dec;39(12):933-4.

 

Last Updated: 9 Dec 2002

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Genitopatellar syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
 

Author(s): Philippe M Campeau, James T Lu, Brian C Dawson, Ivo F A C Fokkema, Stephen P Robertson, Richard A Gibbs, Brendan H Lee

Journal: Hum. Mutat.. 2012 Nov;33(11):1520-5.

 

Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. MYST4/MORF). All variants are de novo dominant mutations that lead ...

Last Updated: 12 Oct 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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