Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
The proximal 15q11-q13 region contains 5 breakpoints (BP1-BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features. We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.
Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Boulevard, MS 4015, Kansas City, KS 66160, USA.
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Usrey
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
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Williams
Department of Neurology, University of Kansas Medical Center, Kansas City, KS 66160, USA ; King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
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Dasouki
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
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Fairbrother
Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Boulevard, MS 4015, Kansas City, KS 66160, USA.
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Butler