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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Journal of Bone and Mineral Research, Volume 32, No. 4, Year 2017
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Description
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, “Raine syndrome” entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775). In 2007, the etiology emerged as loss-of-function mutation of FAM20C that encodes family with sequence similarity 20, member C. FAM20C is highly expressed in embryonic calcified tissues and encodes a kinase (dentin matrix protein 4) for most of the secreted phosphoproteome including FGF23, osteopontin, and other regulators of skeletal mineralization. Herein, we detail the clinical, radiological, biochemical, histopathological, and FAM20C findings of our patients. Following premortem tetracycline labeling, the proposita's non-decalcified skeletal histopathology after autopsy indicated no rickets but documented severe osteomalacia. Archival DNA revealed the sisters were compound heterozygotes for a unique missense mutation and a novel deletion in FAM20C. Individuals heterozygous for the missense mutation seemed to prematurely fuse their metopic suture and develop a metopic ridge sometimes including trigonocephaly. Our findings clarify FAM20C's role in hard tissue formation and mineralization, and show that Raine syndrome is congenital sclerosing osteomalacia with cerebral calcification. © 2016 American Society for Bone and Mineral Research.
Authors & Co-Authors
Whyte, Michael P.
United States, St. Louis
St. Louis Shriners Hospital
United States, St. Louis
Barnes-jewish Hospital
McAlister, William H.
United States, St. Louis
St. Louis Children's Hospital
Fallon, Michael D.
United States, Philadelphia
University of Pennsylvania Perelman School of Medicine
Pierpont, Mary Ella
United States, Minneapolis
Children's Hospitals and Clinics of Minnesota
Bijanki, Vinieth N.
United States, St. Louis
St. Louis Shriners Hospital
Duan, Shenghui
United States, St. Louis
Barnes-jewish Hospital
Otaify, Ghada A.
United States, St. Louis
St. Louis Shriners Hospital
United States, St. Louis
Barnes-jewish Hospital
Egypt, Giza
National Research Centre
Sly, William S.
United States, St. Louis
St. Louis University School of Medicine
Mumm, Steven
United States, St. Louis
St. Louis Shriners Hospital
United States, St. Louis
Barnes-jewish Hospital
Statistics
Citations: 37
Authors: 9
Affiliations: 7
Identifiers
Doi:
10.1002/jbmr.3034
ISSN:
08840431
e-ISSN:
15234681
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health