A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee

Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
T RolvienR Oheim

Abstract

Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of a 72-year-old man who presented with rapid progressive spontaneous osteonecrosis of the knee (SONK). A full osteologic assessment including dual energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses revealed a high bone mass in the lumbar spine and hip (DXA T-score + 7.5 and + 4.7/+4.2) with increased bone microstructural parameters in the distal radius and tibia (BV/TV 127%, 140% of the age-matched mean, respectively), as well as a low bone turnover state. Phosphate levels were low due to renal phosphate wasting and high FGF23 levels (126.5 pg/ml, reference range 23.2-95.4 pg/ml). Using gene panel sequencing, we identified a novel FAM20C heterozygous missense mutation in combination with a homozygous duplication that potentially alters splicing. Taken together, this is the first case of mild Raine syndrome with spontaneous osteonecrosis of the knee, phosphate wasting, and a pronounced trabecular high bone mass phenotype.

References

Jul 15, 1992·American Journal of Medical Genetics·A E Kan, K Kozlowski
Apr 27, 2012·Knee Surgery, Sports Traumatology, Arthroscopy : Official Journal of the ESSKA·S BreerF Barvencik
Jan 18, 2013·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Silje Hjorth RafaelsenRobert Bjerknes
Mar 8, 2013·Seminars in Nephrology·Marta Christov, Harald Jüppner
Apr 8, 2014·Proceedings of the National Academy of Sciences of the United States of America·Vincent S TagliabracciJack E Dixon
Jul 16, 2014·European Journal of Medical Genetics·Víctor FaundesBarry Chioza
Jun 20, 2015·Cell·Vincent S TagliabracciJack E Dixon
May 19, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Lauren A BurtSteven K Boyd
Sep 27, 2016·European Journal of Medical Genetics·Siham Chafai ElalaouiAbdelaziz Sefiani
Nov 20, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Michael P WhyteSteven Mumm
Mar 21, 2017·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·K AsadipooyaL W Greene
Jun 24, 2017·Gene Therapy·K Talbot, E F Tizzano

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Citations

Apr 28, 2020·Calcified Tissue International·Mehmet EltanSerap Turan
Sep 1, 2019·Calcified Tissue International·Elizaveta MamedovaZhanna Belaya
Feb 26, 2020·Genes·Araceli Hernández-ZavalaCarmen Palacios-Reyes
May 3, 2019·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·T RuppT Rolvien
Apr 18, 2020·Orphanet Journal of Rare Diseases·Chiara MameliGianvincenzo Zuccotti
Jun 21, 2019·Current Molecular Biology Reports·Jonathan A Wheeler, Erica L Clinkenbeard
Mar 25, 2021·The Journal of Biological Chemistry·Carolyn A WorbySourav Banerjee
Apr 6, 2021·Frontiers in Endocrinology·Michaël R LaurentJohan Vande Walle
Jul 15, 2021·Journal of Molecular Neuroscience : MN·Laura D FerreiraJoão Ricardo Mendes de Oliveira
Aug 8, 2021·International Journal of Molecular Sciences·Icela Palma-LaraCarmen Palacios-Reyes
Aug 4, 2021·The Spine Journal : Official Journal of the North American Spine Society·Yanyu HuangChunlin Qin

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