16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay
Abstract
Maldžienė, Živilė; Bulanovaitė, Elena; Aleksiūnienė, Beata; Utkus, Algirdas; Preiksaitiene, Egle Author Information
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Altered gene dosage and disrupted regulation can contribute to sCS even in the absence of pathogenic coding variants.
“Tandem duplications of upstream IHH enhancers, rare chromosomal microdeletions and microduplications, and CNVs involving regions that include genes such as FGF2, SPRY1, SEMA5A, FBLN2, and TMEM43 support the concept that altered gene dosage and disrupted regulation can contribute to sCS even in the absence of pathogenic coding variants [64, 85, 87, 115, 124].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [85]
Cites
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Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
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Genetics versus environment in the pathophysiology of sagittal synostosis
De Gregorio, V., Tosi, D. D., Vita, A., Salvati, M., Massimi, L., Tamburrini, G., Tiberio, F., & Lattanzi, W. (2026) · Child's Nervous System · doi:10.1007/s00381-026-07396-5 · Cited by 2 · see citing works
“…and microdu-plications, and CNVs involving regions that include genes such as FGF2 , SPRY1 , SEMA5A , FBLN2 , and TMEM43 support the concept that altered gene dosage and disrupted regulation can contribute to sCS even in the absence of pathogenic coding variants [64, 85, 87, 115, 124].”
- Authors
- Maldžienė, Ž., Bulanovaitė, E., Aleksiūnienė, B., Utkus, A., & Preiksaitiene, E.
- Affiliations
- Institute of Biomedical Science (GB)
- Faculty of Medicine
- Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine
- Corresponding author
- Maldžienė, Živilė
- Venue
- Clinical Dysmorphology
- Published
- 2019-10
- Volume
- 28
- Issue
- 4
- Pages
- 195-197
- ISSN
- 0962-8827 (ISSN-L)
- OpenAlex
- W2952751306
- Cited by
- 3
- References
- 9
- Citations by year
- 2026: 1 · 2024: 1 · 2022: 1
- FWCI
- 0.15
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Dysmorphology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- microdeletion, sagittal craniosynostosis, developmental delay, chromosomal microdeletion syndrome, craniosynostosis
- MeSH terms
- Developmental Disabilities, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Craniosynostoses, Female, Genetic Testing, Humans, Phenotype, Tomography, X-Ray Computed, Facies, Genetic Association Studies
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