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A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Laugel-Haushalter, Virginie; Bär, Séverine; Schaefer, Elise; Stoetzel, Corinne; Geoffroy, Véronique; Alembik, Yves; Kharouf, Naji; Huckert, Mathilde; Hamm, Pauline; Hemmerlé, Joseph; Manière, Marie-Cécile; Friant, Sylvie; Dollfus, Hélène; Bloch-Zupan, Agnès.
Afiliação
  • Laugel-Haushalter V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
  • Bär S; Laboratoire de Génétique Moléculaire, Génomique, Microbiologie (GMGM), UMR7156, Centre National de Recherche Scientifique (CNRS), Université de Strasbourg, Strasbourg, France.
  • Schaefer E; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
  • Stoetzel C; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, IGMA, Strasbourg, France.
  • Geoffroy V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
  • Alembik Y; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Faculté de Médecine, FMTS, Institut Génétique Médicale d'Alsace (IGMA), Université de Strasbourg, Strasbourg, France.
  • Kharouf N; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, IGMA, Strasbourg, France.
  • Huckert M; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
  • Hamm P; Laboratoire de Biomatériaux et Bioingénierie, Inserm UMR_S 1121, Strasbourg, France.
  • Hemmerlé J; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
  • Manière MC; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
  • Friant S; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
  • Dollfus H; Laboratoire de Biomatériaux et Bioingénierie, Inserm UMR_S 1121, Strasbourg, France.
  • Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Front Genet ; 10: 504, 2019.
Article em En | MEDLINE | ID: mdl-31191616
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter presented with intra-uterine and postnatal growth retardation, skeletal dysplasia, macrocephaly, blue sclerae, and hypoplastic AI. We identified a homozygous missense mutation in exon 11 of SLC10A7 (NM_001300842.2: c.908C>T; p.Pro303Leu) segregating with the disease phenotype. We found that Slc10a7 transcripts were expressed in the epithelium of the developing mouse tooth, bones undergoing ossification, and in vertebrae. Our results revealed that SLC10A7 is overexpressed in patient fibroblasts. Patient cells display altered intracellular calcium localization suggesting that SLC10A7 regulates calcium trafficking. Mutations in this gene were previously reported to cause a similar syndromic phenotype, but with more severe skeletal defects (Ashikov et al., 2018;Dubail et al., 2018). Therefore, phenotypes resulting from a mutation in SLC10A7 can vary in severity. However, AI is the key feature indicative of SLC10A7 mutations in patients with skeletal dysplasia. Identifying this important phenotype will improve clinical diagnosis and patient management.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article