Your browser doesn't support javascript.
loading
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A.
Afiliación
  • Knöpfel N; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Zecchin D; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Richardson H; Neurodisability, Great Ormond St Hospital for Children, London, United Kingdom.
  • Polubothu S; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Barberan-Martin S; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Cullup T; North Thames Genomic Laboratory Hub, Levels 4-6, Barclay House, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Gholam K; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Heales S; Department of Chemical Pathology NIHR BRC, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Krywawych S; Department of Chemical Pathology NIHR BRC, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • López-Balboa P; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Muwanga-Nanyonjo N; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom.
  • Ogunbiyi O; Department of Histopathology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Puvirajasinghe C; North Thames Genomic Laboratory Hub, Levels 4-6, Barclay House, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Solman L; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Swarbrick K; Department of Histopathology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Syed SB; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Tahir Z; Paediatric Neurosurgery, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Tisdall MM; Paediatric Neurosurgery, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Allgrove J; Endocrinology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Chesover AD; Endocrinology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Aylett SE; Neurodisability, Great Ormond St Hospital for Children, London, United Kingdom.
  • Jacques TS; Department of Histopathology, Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom; Developmental Biology and Cancer Programme, UCL GOS Institute of Child Health, London, United Kingdom.
  • Hannan FM; Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, United Kingdom.
  • Löbel U; Radiology, Great Ormond St Hospital for Children, London, United Kingdom.
  • Semple RK; Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom.
  • Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom; National Institute for Health Research Oxford Biomedical Research Centre; Oxford, United Kingdom.
  • Kinsler VA; Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom. Electronic addr
J Invest Dermatol ; 144(4): 820-832.e9, 2024 Apr.
Article en En | MEDLINE | ID: mdl-37802294
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%). Lower levels of ionized calcium even within the normal range were significantly associated with seizures, and with specific antiepileptics despite normal vitamin D levels. Successive measurements documented substantial intrapersonal fluctuation in indices over time, and DEXA scans were normal in patients with hypocalcemia. Neurohistology from epilepsy surgery in five patients revealed not only intravascular, but perivascular and intraparenchymal mineral deposition and intraparenchymal microvascular disease in addition to previously reported findings. Neuroradiology review clearly demonstrated progressive calcium deposition in individuals over time. These findings and those of the adjoining paper suggest that calcium deposition in the brain of patients with GNAQ/GNA11 mosaicism may not be a nonspecific sign of damage as was previously thought, but may instead reflect the central postnatal pathological process in this disease spectrum.
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calcinosis / Síndromes Neurocutáneos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: J Invest Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calcinosis / Síndromes Neurocutáneos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: J Invest Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos