The authors report a case of campomelic dwarfism concerning a girl presently 4 years old. The exceptionally long life span of this child has permitted a complete study of the clinical evolution and characteristic radiological features of this syndrome, probably transmitted as a genetic disease.
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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Proc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFMissense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis and other skeletal features.
HGG Adv
January 2025
Department of Surgery, Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:
SOX9 encodes an SRY-related transcription factor critical for chondrogenesis and sex determination among other processes. Loss-of-function variants cause campomelic dysplasia and Pierre Robin Sequence, while both gain- and loss-of-function variants cause disorders of sex development. SOX9 has also been linked to scoliosis and cancers, but variants are undetermined.
View Article and Find Full Text PDFLong-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.
Ann Otol Rhinol Laryngol
December 2024
Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Article Synopsis
- This case series examines airway management outcomes, including reconstruction efforts, in 6 patients with campomelic dysplasia who faced severe airway obstructions leading to tracheostomy and reliance on ventilators.!* -
- The average age of participants was 19.4 years, with a mean follow-up of 12.2 years; results showed that 4 patients underwent successful airway reconstruction and were able to be decannulated.!* -
- The study highlights that while campomelic dysplasia was once seen as a life-threatening condition, successful airway management can lead to improved survival rates and quality of life for affected individuals into adulthood.!*
Dissecting SOX9 dynamics reveals its differential regulation in osteoarthritis.
J Cell Physiol
December 2024
Department of Developmental Bioengineering, Faculty of Science and Technology, Technical Medical Center, University of Twente, Enschede, The Netherlands.
The transcription factor SOX9 is integral to tissue homeostasis and is implicated in skeletal malformation, campomelic dysplasia, and osteoarthritis (OA). Despite extensive research, the complete regulatory landscape of SOX9 transcriptional activity, interconnected with signaling pathways (TGFβ, WNT, BMP, IHH, NFκB, and HIF), remains challenging to decipher. This study focuses on elucidating SOX9 signaling in OA pathology using Fluorescence Recovery After Photobleaching (FRAP) to assess SOX9 activity directly in live human primary chondrocytes (hPCs).
View Article and Find Full Text PDFChromatin profiling identifies chondrocyte-specific Sox9 enhancers important for skeletal development.
JCI Insight
June 2024
Department of Molecular and Cellular Biochemistry.
Article Synopsis
- The transcription factor Sox9 is crucial for the development of cartilage and its mutations lead to campomelic dysplasia (CD), a condition marked by skeletal deformities.
- This study identified two enhancers, E308 and E160, which influence Sox9 expression; deleting both enhancers resulted in dwarfed mice and reduced Sox9 levels.
- The research also uncovered that other chromatin regions can partially compensate for the loss of these enhancers, highlighting the complex regulation of the Sox9 gene in cartilage development.
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