Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jdermsci.2007.06.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children].
Zhonghua Er Ke Za Zhi
October 2024
Department of Endocrinology and Metabolism, Anhui Provincial Children's Hospital, Hefei 230000, China.
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Eur J Med Genet
June 2024
Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK. Electronic address:
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.
View Article and Find Full Text PDFClinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Eur J Med Genet
June 2024
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Article Synopsis
- Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome with unique facial, ectodermal, and skeletal traits, categorized into different types based on genetic causes.
- A study at Aarhus University Hospital analyzed 15 patients with TRPS type I, highlighting a median age of diagnosis at 15 years and a follow-up period of 10 years, revealing a prevalence of 0.5 in 100,000 individuals.
- Common symptoms included fine hair, distinctive facial features, joint complaints, and skeletal anomalies, with no clear link between specific genetic mutations and the clinical symptoms, underscoring the importance of multidisciplinary care for effective diagnosis and management.
Cis-regulatory control of mammalian Trps1 gene expression.
J Exp Zool B Mol Dev Evol
March 2024
National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Article Synopsis
- TRPS1 is linked to tricho-rhino-phalangeal syndrome, which causes craniofacial and skeletal issues, primarily by repressing Wnt signaling through interactions with its inhibitors.
- * Researchers identified eight conserved noncoding elements (CNEs) within the Trps1 gene using a comparative genomics approach with slowly evolving fish species.
- * Functional studies in zebrafish showed that these CNEs have regulatory roles in various tissues and exhibit context-dependent dual functions, enhancing our understanding of Trps1 in development and disease.*
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!