Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder
Abstract
The 3q29 microdeletion syndrome is caused by a recurrent 1.6 Mb deletion of the 3q subtelomeric region. Though sometimes visible on routine microscopy, the deletion is detected more reliably using subtelomeric fluorescence in-situ hybridization (FISH) or molecular karyotyping. The clinical features associated with a 3q29 microdeletion are variable and include developmental delay, autistic features, skeletal abnormalities and dysmorphic facial features with a relatively long face, long nose with a high bridge and broad tip, short philtrum and large ears. Orofacial clefting, cardiac defects, ocular anomalies and genitourinary malformations have been reported occasionally. We report a three generation family where four individuals were confirmed to have a 3q29 microdeletion and compare their clinical features to those of previously reported patients. This family shows that the learning difficulties associated with a 3q29 deletion may be relatively mild. The history of a severe depressive disorder commencing in adulthood in the affected grandmother also supports previous studies linking the 3q29 region to bipolar disorder and links with the observation of Digilio et al. (2009) who also reported a history of depression in an adult woman with a similar deletion.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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?
Very few CNVs contributing to schizophrenia are also associated with bipolar disorder, with possible exceptions being 16p11.2 microduplications and 3q29 microdeletions.
“Notably, very few of the CNVs that contribute to risk for schizophrenia are also associated with bipolar disorder, the possible exceptions being microduplications of 16p11.2 (McCarthy et al., 2009) and microdeletions of 3q29 (Clayton-Smith et al., 2010; Malhotra et al., 2011), which have been reported in multiple cases (Table 1).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Clayton-Smith et al., 2010
Cites
Shaw-Smith, C., Redon, R., Rickman, L., Rio, M., Willatt, L., Fiegler, H., Firth, H., Sanlaville, D., Winter, R. M., Colleaux, L., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017731 · Cited by 512 · see citing works
Self-citationThe detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
Jonathan Flint, C., Wilkie, A. O. M., Buckle, V. J., Winter, R. M., Holland, A. J., & McDermid, H. E. (1995) · Nature Genetics · doi:10.1038/ng0295-132 · Cited by 505 · see citing works
MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS
Shaffer, L. G., & Lupski, J. R. (2000) · Annual Review of Genetics · doi:10.1146/annurev.genet.34.1.297 · Cited by 418 · see citing works
Ballif, B. C., Theisen, A. P., Coppinger, J., Gowans, G. C., Hersh, J. H., Madan‐Khetarpal, S., Schmidt, K. R., Tervo, R. C., Escobar, L., Friedrich, C. A., et al. (2008) · Molecular Cytogenetics · doi:10.1186/1755-8166-1-8 · Cited by 297 · see citing works
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
Willatt, L. R., Cox, J. J., Barber, J. C. K., Cabanas, E. D., Collins, A., Donnai, D., FitzPatrick, D. R., Maher, E., Martin, H., Parnau, J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431653 · Cited by 290 · see citing works
Self-citationKoolen, D. A., Nillesen, W. M., Versteeg, M. H. A., Merkx, G. F. M., Knoers, N. V. A. M., Kets, M., Vermeer, S., van Ravenswaaij‐Arts, C. M. A., de Kovel, C. G. F., Brunner, H. G., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.023671 · Cited by 161 · see citing works
Maziade, M., Roy, M.-A., Chagnon, Y. C., Cliche, D., Fournier, J.-P., Montgrain, N., Dion, C., Lavallée, J.-C., Garneau, Y., Gingras, N., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001594 · Cited by 157 · see citing works
Slavotinek, A. M., Rosenberg, M. J., Knight, S. J. L., et al. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.5.405 · Cited by 134 · see citing works
Krepischi, A. C. V., Vianna‐Morgante, A. M., Jehee, F. S., Passos‐Bueno, M. R., Knijnenburg, J., Szuhai, K., Sloos, W. C. R., Mazzeu, J. F., Kok, F., Cheroki, C., et al. (2006) · Cytogenetic and Genome Research · doi:10.1159/000095922 · Cited by 126 · see citing works
Digilio, M. C., Bernardini, L., Mingarelli, R., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32965 · Cited by 108 · see citing works
Gravholt, C. H., & Næraa, R. W. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971112)72:4 · Cited by 92 · see citing works
Advances in molecular cytogenetics for the evaluation of mental retardation
Xu, J., & Chen, Z. (2003) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.10016 · Cited by 82 · see citing works
Li, F., Lisi, E. C., Wohler, E., Hamosh, A., & Batista, D. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.05.001 · Cited by 66 · see citing works
Pollazzon, M., Grosso, S., Papa, F. T., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.009 · Cited by 30 · see citing works
Baynam, G., Goldblatt, J., & Townshend, S. (2006) · Clinical Dysmorphology · doi:10.1097/01.mcd.0000198934.55071.ee · Cited by 28 · see citing works
1.6 Mb deletion in chromosome band 3q29 associated with eye abnormalities
Tyshchenko, N., Hackmann, K., Gerlach, E., Neuhann, T., Schröck, E., & Tinschert, S. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.002 · Cited by 20 · see citing works
Possible linkage of schizophrenia and bipolar affective disorder to chromosome 3q29
Schosser, A., Fuchs, K., Leisch, F., Bailer, U. F., Meszaros, K., Lenzinger, E., Willinger, U., Strobl, R., Heiden, A. M., Gebhardt, C., et al. (2004) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2003.11.004 · Cited by 18 · see citing works
Additional support for linkage of schizophrenia and bipolar disorder to chromosome 3q29
Schosser, A., Fuchs, K., Scharl, T., Leisch, F., Bailer, U. F., Kasper, S. F., Sieghart, W., Hornik, K., & Aschauer, H. N. (2007) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2007.01.004 · Cited by 8 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.11.007 · Cited by 325 · see citing works
Neurogenetics: Advancing the “Next-Generation” of Brain Research
Zoghbi, H. Y., & Warren, S. T. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.015 · Cited by 48 · see citing works
- Authors
- Clayton-Smith, J., Giblin, C., Smith, R. A., Dunn, C., & Willatt, L.
- Affiliations
- University of Manchester (GB)
- Rochdale Infirmary (GB)
- Addenbrooke's Hospital (GB)
- Corresponding author
- Smith, Rupert A.
- ORCID
- Smith, Rupert A.
- Venue
- Clinical Dysmorphology
- Published
- 2010-07
- Volume
- 19
- Issue
- 3
- Pages
- 128-132
- ISSN
- 0962-8827 (ISSN-L)
- OpenAlex
- W1996154318
- Cited by
- 64
- References
- 18
- Citations by year
- 2023: 1 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 5 · 2018: 33 · 2016: 3 · 2015: 2 · 2014: 1 · 2013: 3 · 2012: 4
- FWCI
- 2.69
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Dysmorphology (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- bipolar disorder, subtelomeric deletion, developmental delay, learning difficulties, depressive disorders, facial dysmorphism, orofacial clefts, cardiac defects, genitourinary anomalies
- MeSH terms
- Adolescent, Bipolar Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 3, Family, Female, Humans, Male, Pedigree, Pregnancy, Syndrome, In Situ Hybridization, Fluorescence
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
