Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

Détails

ID Serval
serval:BIB_429386337CB1
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
Périodique
Clinical genetics
Auteur(s)
Fradin M., Stoetzel C., Muller J., Koob M., Christmann D., Debry C., Kohler M., Isnard M., Astruc D., Desprez P., Zorres C., Flori E., Dollfus H., Doray B.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
08/2011
Peer-reviewed
Oui
Volume
80
Numéro
2
Pages
177-183
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first case reported in 1989 by Raine et al. 21 cases have been published delineating a phenotype which associates dysmorphic features, cerebral calcifications, choanal atresia or stenosis and thoracic/pulmonary hypoplasia. Kan and Kozlowski suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. All the cases described were lethal during the neonatal period except for the last two reported patients aged 8 and 11 years who presented severe mental retardation. Here we describe two sisters, with an attenuated phenotype of Raine syndrome, who present an unexpectedly normal psychomotor development at ages 4 and 1, respectively. Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. This case report also prompted us to revisit the FAM20 gene classification and allowed us to highlight the ancestral status of Fam20C.

Mots-clé
Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/genetics, Amino Acid Sequence, Base Sequence, Bone and Bones/pathology, Casein Kinase I, Child, Child, Preschool, Choanal Atresia/genetics, Choanal Atresia/metabolism, Cleft Palate/diagnosis, Cleft Palate/genetics, Exophthalmos/diagnosis, Exophthalmos/genetics, Extracellular Matrix Proteins/genetics, Female, Humans, Male, Microcephaly/diagnosis, Microcephaly/genetics, Molecular Sequence Data, Mutation, Osteosclerosis/diagnosis, Osteosclerosis/genetics, Phenotype
Pubmed
Web of science
Création de la notice
28/08/2017 14:33
Dernière modification de la notice
03/03/2018 16:38
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