title: Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
abstract: Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations.
authors.affiliation: Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Farouq K
authors.initials: FK
authors.lastname: Ababneh
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: AlSwaid
authors.forename: Talaat
authors.initials: T
authors.lastname: Youssef
authors.forename: Manaf
authors.initials: M
authors.lastname: Al Azzawi
authors.forename: Andrew
authors.initials: A
authors.lastname: Crosby
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: AlBalwi
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D001848:Bone Diseases, Developmental / Q000235:genetics; D047389:Casein Kinase I; D002972:Cleft Palate / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D005094:Exophthalmos / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D009154:Mutation; D010026:Osteosclerosis / Q000150:complications / Q000209:etiology / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology
chemical_list: D016326:Extracellular Matrix Proteins; D047389:Casein Kinase I; C524449:FAM20C protein, human
keywords: 7p22.3 deletion; FAM20C; Raine syndrome; aCGH; wormian bones