Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Détails

ID Serval
serval:BIB_DD901C475945
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
Institution
Titre
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
Périodique
American journal of medical genetics. Part A
Auteur⸱e⸱s
Isidor B., Cormier-Daire V., Le Merrer M., Lefrancois T., Hamel A., Le Caignec C., David A., Jacquemont S.
ISSN
1552-4825
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
146A
Numéro
12
Pages
1593-7
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article -
Résumé
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is characterized by progressive fusion of vertebras and associates unsegmented bars, scoliosis, short stature, carpal and tarsal synostosis. Cleft palate, sensorineural or mixed hearing loss, joint limitation, clinodactyly, and dental enamel hypoplasia are variable manifestations. Twenty-five patients have been reported. Thirteen affected individuals were siblings from six families and four of these families were consanguineous. In four of those families, Krakow et al. [Krakow et al. (2004) Nat Genet 36:405-410] found homozygosity or compound heterozygosity for mutations in the gene encoding FLNB. This confirmed autosomal recessive inheritance of the disorder. We report on two new patients (a mother and her son) representing the first case of autosomal dominant inheritance. These patients met the clinical and radiological criteria for SCT and did not present any features which could exclude this diagnosis. Molecular analysis failed to identify mutations in NOG and FLNB. SCT is therefore, genetically heterogeneous. Both dominant and autosomal recessive forms of inheritance should be considered during genetic counseling.
Mots-clé
Adult, Child, Contractile Proteins/genetics, Female, Genes, Dominant, Hand Deformities/genetics, Hand Deformities/radiography, Humans, Male, Microfilament Proteins/genetics, Mutation, Pedigree, Phenotype, Spine/abnormalities, Spine/radiography, Synostosis/genetics, Synostosis/radiography, Tarsal Bones/abnormalities, Tarsal Bones/radiography
Pubmed
Web of science
Création de la notice
14/10/2009 10:28
Dernière modification de la notice
20/08/2019 16:02
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