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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
Open accessAbstract
Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow's milk intolerance. Evidence for autosomal recessive inheritance comes from families with several affected individuals born to unaffected parents, but several other observations argue for a more complex pattern of inheritance. In this study, we describe a common interstitial microdeletion of 200 kb on chromosome 1q21.1 in all 30 investigated patients with TAR syndrome, detected by microarray-based comparative genomic hybridization. Analysis of the parents revealed that this deletion occurred de novo in 25% of affected individuals. Intriguingly, inheritance of the deletion along the maternal line as well as the paternal line was observed. The absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR syndrome. We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR).
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“The first is a deletion at 1q21.1 reported in TAR syndrome37”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [37]
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Metadata
- Authors
- Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., König, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., & Mundlos, S.
- Affiliations
- Charité – Universitätsmedizin Berlin (DE)
- University of British Columbia (CA)
- Bristol Royal Hospital for Children (GB)
- Katholisches Kinderkrankenhaus Wilhelmstift (DE)
- University Hospital Frankfurt (DE)
- Max Planck Institute for Molecular Genetics (DE)
- Corresponding author
- Mundlos, Stefan
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 80
- Issue
- 2
- Pages
- 232-240
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1785342
- OpenAlex
- W2001475328
- Cited by
- 360
- References
- 42
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 5 · 2023: 9 · 2022: 10 · 2021: 16 · 2020: 9 · 2019: 19 · 2018: 9 · 2017: 15 · 2016: 6 · 2015: 22 · 2014: 17 · 2013: 27 · 2012: 30
- FWCI
- 14.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Deutsche Forschungsgemeinschaft
- 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
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Keywords
- thrombocytopenia-absent radius syndrome, autosomal recessive inheritance, radial aplasia, de novo deletion, congenital heart disease, cow's milk intolerance
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Female, Humans, Infant, Male, Middle Aged, Radius, Syndrome, Thrombocytopenia, Inheritance Patterns
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