Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
Am J Med Genet A
; 161A(12): 3155-60, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24039075
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteosclerose
/
Anormalidades Múltiplas
/
Exoftalmia
/
Proteínas da Matriz Extracelular
/
Fissura Palatina
/
Microcefalia
Tipo de estudo:
Etiology_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article