The DOI matches its Crossref record; 31 of the 33 references it cites were found in a registry or an index.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Abstract
Background TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. Methods We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. Results Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects. In this enlarged collection, novelties include a wider range of cognitive dysfunction, with some individuals exhibiting normal development despite early psychomotor delay. Communication challenges, particularly in expressive language, are prevalent, necessitating alternative communication methods. Autistic traits, notably rigidity, are observed in the cohort. Also, worth highlighting are hearing loss, sleep disturbances, and endocrine anomalies, including growth deficiency. Cardiac defects, frequently severe, pose early-life complications. Facial features, including arched eyebrows, contribute to the distinct gestalt. A novel missense variant, p.(Arg653Leu), further underscores the complex relationship between germline TRAF7 variants and somatic changes linked to meningiomas. Conclusions Our comprehensive analysis expands the phenotypic spectrum, emphasizing the need…
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“Disruption of these morphogenesis and growth pathways, which govern the development of multiple organ systems, leads to multisystem involvement and distinctive somatic features characteristic of syndromic ASD”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Palma-Milla et al., 2024
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Genomic Analysis of Non- NF2 Meningiomas Reveals Mutations in TRAF7 , KLF4 , AKT1 , and SMO
Clark, V. E., Erson-Omay, Z., Harmancı, A. S., Yin, J., Cotney, J. L., Özduman, K., Avşar, T., Li, J., Murray, P. B., Henegariu, O., et al. (2013) · Science · doi:10.1126/science.1233009 · Cited by 915
Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations
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Cavalcanti, E. B. U., Ferreira, A. D. L. R., Sakai, N., de Souza, F. S., de Moura, H. B., da Silveira, E. B., Martins, G. M. B. L., & Cardoso, M. D. M. (2026) · European Journal of Neurology · doi:10.1111/ene.70519
Primary congenital glaucoma in a patient with CAFDADD syndrome carrying a rare TRAF7 variant
García-Bermúdez, M., García-Bardera, J., Alarcón-García, A. D., Morales‐Fernández, L., Escribano, J., Martínez-de-la-Casa, J. M., & Garcia-Feijoo, J. (2026) · Journal Français d Ophtalmologie · doi:10.1016/j.jfo.2026.104880
Xiao, M., Liu, Y., Song, X., Liu, J., Tang, X., Maosen, 窦. D., Yu, W., Zhang, H., Weng, W., Han, D., et al. (2026) · Science Advances · doi:10.1126/sciadv.adw8672
Metadata
- Authors
- Palma-Milla, C., Prat-Planas, A., Soengas-Gonda, E., Centeno-Pla, M., Sánchez-Pozo, J., Lazaro-Rodriguez, I., Quesada-Espinosa, J. F., Arteche-Lopez, A., Olival, J., Pacio-Miguez, M., Palomares-Bralo, M., Santos-Simarro, F., Cancho-Candela, R., Vázquez-López, M., Seidel, V., Martinez-Monseny, A. F., Casas-Alba, D., Grinberg, D., Balcells, S., Serrano, M., Rabionet, R., Martin, M. A., & Urreizti, R.
- Affiliations
- Instituto de Salud Carlos III (ES)
- Hospital Sant Joan de Déu Barcelona (ES)
- Research Institute Hospital 12 de Octubre (ES)
- ORCID
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2024-06
- Volume
- 155
- Pages
- 8-17
- ISSN
- 0887-8994 (ISSN-L)
- OpenAlex
- W4392815565
- Cited by
- 4
- References
- 33
- Citations by year
- 2026: 3 · 2025: 1
- FWCI
- 1.06
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Gobierno de España Ministerio de Ciencia e Innovación
- Generalitat de Catalunya Agència de Gestió d'Ajuts Universitaris i de Recerca
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- germline missense variants, phenotypic spectrum, developmental delay, cardiac defects, facial dysmorphism, digital anomalies, cognitive impairment, autistic traits, hearing loss, sleep disorders, growth deficiency, meningioma, novel variants, neurodevelopmental disorders
- MeSH terms
- Adolescent, Child, Developmental Disabilities, Child, Preschool, Female, Heart Defects, Congenital, Humans, Infant, Male, Phenotype, Mutation, Missense, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
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