Afficher la couverture 'Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects | Bloch-Zupan, Agnès' en grand format
/5

0 avis

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

Archive ouverte

Bloch-Zupan, Agnès | Jamet, Xavier | Etard, Christelle | Laugel, Virginie | Muller, Jean | Geoffroy, Véronique | Strauss, Jean-Pierre | Pelletier, Valérie | Marion, Vincent | Poch, Olivier | Strahle, Uwe | Stoetzel, Corinne | Dollfus, Hélène

Edité par CCSD ; Elsevier (Cell Press) -

International audience. Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. The two affected children were found to carry a homozygous mutation in SMOC2. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2.

Consulter en ligne

Suggestions

Du même auteur

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Archive ouverte | Scheidecker, Sophie | CCSD

BACKGROUND: Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7...

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Archive ouverte | Estrada-Cuzcano, Alejandro | CCSD

Polydactyly is one of the most frequent inherited defects of the limbs characterized by supernumerary digits and high genetic heterogeneity. Among the many genes involved, either in isolated or syndromic forms, 8 have been implica...

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Archive ouverte | Kröll-Hermi, Ariane | CCSD

International audience. The ubiquitin-proteasome system degrades ubiquitin-modified proteins to maintain protein homeostasis and to control signalling. Whole-genome sequencing of patients with severe deafness and ea...

Chargement des enrichissements...