Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Individuals have been reported with the 15q11.2 BP1-BP2 microdeletion and additional non-neurological clinical findings including congenital cataracts, proximal esophageal atresia and distal tracheoesophageal fistula (type C), and congenital arthrogryposis.
“Recently, individuals have been reported with the 15q11.2 BP1–BP2 microdeletion and additional non-neurological clinical findings. These findings included congenital cataracts [14,35], proximal esophageal atresia and distal tracheoesophageal fistula (type C) [35] and congenital arthrogryposis [36].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [36]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
No citation lists for this paper
No citation lists for this paper yet — checked again daily.
References 22 · Cited by 16
Research works printed but not linked: 17
- [1]Bittel DC Butler MG Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology Expert Reviews in Molecular Medicine 2005 7 14 1 20 2-s2.0-31044455614 PMC6750281 16038620
- [2]Butler MG Prader-willi syndrome: obesity due to genomic imprinting Current Genomics 2011 12 3 204 215 2-s2.0-79956282385 22043168 PMC3137005
- [3]Butler MG Bittel DC Kibiryeva N Talebizadeh Z Thompson T Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy Pediatrics 2004 113 3 565 573 2-s2.0-1442323876 14993551 PMC6743499
- [5]Williams CA Driscoll DJ Dagli AI Clinical and genetic aspects of Angelman syndrome Genetics in Medicine 2010 12 7 385 395 2-s2.0-77955173454 20445456
- [6]Chai J-H Locke DP Greally JM Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons American Journal of Human Genetics 2003 73 4 898 925 2-s2.0-0142027581 14508708 PMC1180611
- [7]Goytain A Hines RM El-Husseini A Quamme GA NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter Journal of Biological Chemistry 2007 282 11 8060 8068 2-s2.0-34247275788 17166836
- [8]Rainier S Chai J-H Tokarz D Nicholls RD Fink JK NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6) American Journal of Human Genetics 2003 73 4 967 971 2-s2.0-0142122897 14508710 PMC1180617
- [9]Goytain A Hines RM Quamme GA Functional characterization of NIPA2, a selective Mg2+ transporter American Journal of Physiology 2008 295 4 C944 C953 2-s2.0-57049180275 18667602
- [10]Napoli I Mercaldo V Boyl PP The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP Cell 2008 134 6 1042 1054 2-s2.0-51549108502 18805096
- [13]Murthy SK Nygren AOH El Shakankiry HM Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment Cytogenetic and Genome Research 2007 116 1-2 135 140 2-s2.0-33846669291 17268193
- [14]Stefansson H Rujescu D Cichon S Large recurrent microdeletions associated with schizophrenia Nature 2008 455 7210 232 236 2-s2.0-49949085933 18668039 PMC2687075
- [15]Kirov G Grozeva D Norton N Support for the involvement of large copy number variants in the pathogenesis of schizophrenia Human Molecular Genetics 2009 18 8 1497 1503 2-s2.0-64549147485 19181681 PMC2664144
- [18]Burnside RD Pasion R Mikhail FM Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay Human Genetics 2011 130 4 517 528 2-s2.0-80054848222 21359847 PMC6814187
- [19]Wong D Johnson SM Young D Iwamoto L Sood S Slavin TP Expanding the BP1-BP2 15q11.2 microdeletion phenotype: tracheoesophageal fistula and congenital cataracts Case Reports in Genetics 2013 2013 3 pages 801094 PMC3707229 23864968
- [20]Bamshad M Van Heest AE Pleasure D Arthrogryposis: a review and update Journal of Bone and Joint Surgery. American 2009 91 4 40 46 2-s2.0-67651159391 PMC2698792 19571066
- [21]Hall JG Genetic aspects of arthrogryposis Clinical Orthopaedics and Related Research 1985 194 44 53 2-s2.0-0021948713 3978933
- [22]Darin N Kimber E Kroksmark A-K Tulinius M Multiple congenital contractures: birth prevalence, etiology, and outcome Journal of Pediatrics 2002 140 1 61 67 2-s2.0-0036165852 11815765
- Authors
- Usrey, K. M., Williams, C. A., Dasouki, M., Fairbrother, L. C., & Butler, M. G.
- Affiliations
- University of Kansas Medical Center (US)
- University of Florida Health (US)
- King Faisal Specialist Hospital & Research Centre (SA)
- Corresponding author
- Usrey, K. M.
- Venue
- Case Reports in Genetics
- Publisher
- Hindawi Limited
- Published
- 2014
- Volume
- 2014
- Pages
- 1-3
- ISSN
- 2090-6544 (ISSN-L)
- 2090-6552
- PMC
- PMC3978403
- OpenAlex
- W2015887384
- Cited by
- 16
- References
- 22
- Citations by year
- 2025: 2 · 2023: 1 · 2021: 3 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 2
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Case Reports in Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD002528)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- arthrogryposis multiplex congenita, chromosome 15q11-q13, microdeletion syndromes, neurological disorders, phenotype expansion, central nervous system development, developmental delay
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
