Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Abstract
Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.
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Duplications of the 7q11.23 region have been reported before in developmental disorders, including autism spectrum disorder.
“Duplications in this interval have previously been described in developmental disorders, including ASD (Berg et al., 2007; Van der Aa et al., 2009)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Van der Aa et al., 2009
Duplication at the locus causing 7q11.23 microduplication syndrome (deleted in Williams-Beuren Syndrome) has prominent features including autism and developmental delay.
“Another region is a duplication at the locus causing the 7q11.23 microduplication syndrome (which is deleted in Williams–Beuren Syndrome), the prominent features of which include autism and developmental delay.38”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [38]
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- Authors
- Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., Destrée, A., Maystadt, I., Männik, K., Kurg, A., Reimand, T., McMullan, D., Oley, C., Brueton, L., Bongers, E. M. H. F., van Bon, B. W. M., Pfund, R., Jacquemont, S., Ferrarini, A., Martinet, D., Schrander-Stumpel, C., Stegmann, A. P. A., Frints, S. G. M., de Vries, B. B. A., Ceulemans, B., & Kooy, R. F.
- Affiliations
- University of Antwerp (BE)
- Ghent University Hospital (BE)
- Institute of Pathology and Genetics (BE)
- University of Tartu (EE)
- Tartu University Hospital (EE)
- Birmingham Women's Hospital (GB)
- Radboud University Medical Center (NL)
- Centre Hospitalier Universitaire Vaudois (CH)
- Maastricht University Medical Centre (NL)
- Antwerp University Hospital (BE)
- ORCID
- Venue
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Published
- 2009-03
- Volume
- 52
- Issue
- 2-3
- Pages
- 94-100
- ISSN
- 1769-7212 (ISSN-L)
- OpenAlex
- W2162735782
- Cited by
- 216
- References
- 23
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 11 · 2022: 4 · 2021: 5 · 2020: 14 · 2019: 8 · 2018: 11 · 2017: 8 · 2016: 3 · 2015: 12 · 2014: 13 · 2013: 20 · 2012: 18
- FWCI
- 10.55
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- IRIS (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Williams syndrome, idiopathic intellectual disability, speech delay, autism spectrum disorder, hypotonia, congenital heart disease, diaphragmatic hernia, cryptorchidism, facial dysmorphism, phenotypic characterization
- MeSH terms
- Abnormalities, Multiple, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 7, Face, Family Health, Female, Humans, Infant, Male, Intellectual Disability, Phenotype, Speech Disorders, Syndrome, Williams Syndrome, Chromosome Disorders
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