Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion
Abstract
Case report We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS.Conclusions Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.
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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 [64]
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References 34 · Cited by 4
- Authors
- Fernández-Jaén, A., Fernández-Perrone, A. L., Fernández-Mayoralas, D. M., Calleja-Pérez, B., Sánchez-Hombre, M. D. C., Fernández, E. C., & López-Martín, S.
- Venue
- Child's Nervous System
- Published
- 2014-07-01
- Volume
- 30
- Issue
- 12
- Pages
- 2157-2161
- ISSN
- 0256-7040 (ISSN-L)
- 1433-0350
- OpenAlex
- W2104076444
- Cited by
- 4
- References
- 34
- Citations by year
- 2026: 1 · 2022: 2 · 2016: 1
- FWCI
- 0.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Child s Nervous System (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
- craniosynostosis, psychomotor retardation, facial dysmorphism, FGF2, SPRY1, syndromic craniosynostosis, array comparative genomic hybridization, genetic counseling
- MeSH terms
- Abnormalities, Multiple, Child, Chromosome Deletion, Chromosomes, Human, Pair 4, Craniosynostoses, Fetal Growth Retardation, Genetic Counseling, Genotype, Humans, Male, Membrane Proteins, Intellectual Disability, Muscular Atrophy, Phosphoproteins, Proteins, Psychomotor Disorders, Fibroblast Growth Factor 2, Facies, Craniofacial Abnormalities, Genetic Predisposition to Disease, Genetic Association Studies
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