Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome

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 contai...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-12, Vol.161A (12), p.3155-3160
Main Authors: Ababneh, Farouq K., AlSwaid, Abdulrahman, Youssef, Talaat, Al Azzawi, Manaf, Crosby, Andrew, AlBalwi, Mohammed A.
Format: Article
Language:English
Subjects:
7p22.3 deletion
Abnormalities, Multiple - etiology
Abnormalities, Multiple - genetics
Abnormalities, Multiple - mortality
Abnormalities, Multiple - physiopathology
aCGH
Bone Diseases, Developmental - genetics
Bone growth
Casein Kinase I
Cleft Palate - etiology
Cleft Palate - genetics
Cleft Palate - mortality
Cleft Palate - physiopathology
Craniofacial syndromes
Exophthalmos - etiology
Exophthalmos - genetics
Exophthalmos - mortality
Exophthalmos - physiopathology
Extracellular Matrix Proteins - genetics
FAM20C
Gene Deletion
Hereditary diseases
Humans
Infant, Newborn
Male
Microcephaly - etiology
Microcephaly - genetics
Microcephaly - mortality
Microcephaly - physiopathology
Mutation
Neonates
Osteogenesis
Osteosclerosis
Osteosclerosis - complications
Osteosclerosis - etiology
Osteosclerosis - genetics
Osteosclerosis - mortality
Osteosclerosis - physiopathology
Phenotypes
Raine syndrome
Stenosis
wormian bones
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Summary: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. © 2013 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36160