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Methods Mol Biol. 2019;1922:407-452. doi: 10.1007/978-1-4939-9012-2_36.

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

Author information

1
Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
2
Hôpitaux Universitaires de Strasbourg, Laboratoires de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Strasbourg, France.
3
Hôpitaux Universitaires de Strasbourg, IRC, Institut Régional du Cancer, Strasbourg, France.
4
Laboratoire de Génétique Médicale, INSERM UMRS_1112, Institut de Génétique Médicale d'Alsace, FMTS, Université de Strasbourg, Strasbourg, France.
5
Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de Référence des Maladies Rares Orales et Dentaires (CRMR, Reference Center for Rare Oral Diseases), O-Rares, Strasbourg, France.
6
Institut de Génétique et de Biologie Moléculaire and Cellulaire, Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U1258, Université de Strasbourg, Strasbourg, Illkirch, France.
7
Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France. agnes.bloch-zupan@unistra.fr.
8
Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de Référence des Maladies Rares Orales et Dentaires (CRMR, Reference Center for Rare Oral Diseases), O-Rares, Strasbourg, France. agnes.bloch-zupan@unistra.fr.
9
Institut de Génétique et de Biologie Moléculaire and Cellulaire, Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U1258, Université de Strasbourg, Strasbourg, Illkirch, France. agnes.bloch-zupan@unistra.fr.
10
Université de Strasbourg Institut d'Etudes Avancées USIAS, Strasbourg, France. agnes.bloch-zupan@unistra.fr.
11
University College London, Eastman Dental Institute, London, UK. agnes.bloch-zupan@unistra.fr.

Abstract

Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerous syndromes (Bloch-Zupan A, Sedano H, Scully C. Dento/oro/craniofacial anomalies and genetics, 1st edn. Elsevier, Boston, MA, 2012). Concerning amelogenesis imperfecta (AI), for example, mutations in a number of genes have been reported to cause isolated AI, including AMELX, ENAM, KLK4, MMP20, FAM83H, WDR72, C4orf26, SLC24A4, and LAMB3. In addition, many other genes such as DLX3, CNNM4, ROGDI, FAM20A, STIM1, ORAI1, and LTBP3 have been shown to be involved in developmental syndromes with enamel defects. The clinical presentation of the enamel phenotype (hypoplastic, hypomineralized, hypomature, or a combination of severities) alone does not allow a reliable prediction of possible causative genetic mutations. Understanding the potential genetic cause(s) of rare diseases is critical for overall health management of affected patient. One effective strategy to reach a genetic diagnosis is to sequence a selected gene panel chosen for a determined range of phenotypes. Here we describe a laboratory protocol to set up a specific gene panel for orodental diseases.

KEYWORDS:

Dental anomalies; Gene panel; Genetic variations; Genetics; High-throughput sequencing; Liquid capture; Mendelian disorders; NextSeq 550; Probe enrichment; Rare diseases; Syndromes

PMID:
30838594
DOI:
10.1007/978-1-4939-9012-2_36
[Indexed for MEDLINE]

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