Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Détails

ID Serval
serval:BIB_BB7CA0352043
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
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Robertson S.P., Jenkins Z.A., Morgan T., Adès L., Aftimos S., Boute O., Fiskerstrand T., Garcia-Miñaur S., Grix A., Green A., Der Kaloustian V., Lewkonia R., McInnes B., van Haelst M.M., Mancini G., Macini G., Illés T., Mortier G., Newbury-Ecob R., Nicholson L., Scott C.I., Ochman K., Brozek I., Shears D.J., Superti-Furga A., Suri M., Whiteford M., Wilkie A.O., Krakow D.
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2006
Volume
140
Numéro
16
Pages
1726-1736
Langue
anglais
Notes
Publication types: Case Reports ; Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. Extraskeletal features include tracheobronchial, cardiac, and urological malformations. A proportion of individuals have missense mutations or small deletions in the X-linked gene, FLNA. We report here our experience with comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with FMD. We found missense mutations leading to substitutions in the actin-binding domain and within filamin repeats 9, 10, 14, 16, 22, and 23 of filamin A in 13/23 (57%) of individuals in this cohort. Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death. Although no phenotypic feature consistently discriminates between females with FMD who are heterozygous for FLNA mutations and those in whom no FLNA mutation can be identified, there is a difference in the degree of skewing of X-inactivation between these two groups. This observation suggests that locus heterogeneity may exist for this disorder.
Mots-clé
Adult, Child, Preschool, Cohort Studies, Contractile Proteins/genetics, Female, Genes, X-Linked, Genetic Variation, Humans, Magnetic Resonance Imaging, Male, Microfilament Proteins/genetics, Middle Aged, Mutation, Osteochondrodysplasias/diagnosis, Osteochondrodysplasias/genetics, Phenotype, X Chromosome Inactivation/genetics
Pubmed
Web of science
Création de la notice
14/03/2011 17:08
Dernière modification de la notice
20/08/2019 16:29
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