Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur A. ROLFS |
Documents disponibles écrits par cet auteur (1)
Faire une suggestion Affiner la recherche
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders / J. TRINH in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : J. TRINH, Auteur ; K. K. KANDASWAMY, Auteur ; M. WERBER, Auteur ; M. E. R. WEISS, Auteur ; G. OPREA, Auteur ; S. KISHORE, Auteur ; K. LOHMANN, Auteur ; A. ROLFS, Auteur Article en page(s) : 11 p. Langues : Anglais (eng) Mots-clés : De novo variants Neurodevelopmental disorders Trio exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). METHODS: Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language development, or ID according to Human Phenotype Ontology (HPO) terms. All patients had previously undergone whole exome sequencing as part of diagnostic genetic testing with a focus on variants in genes implicated in neurodevelopmental disorders up to January 2017. This resulted in a genetic diagnosis in 1336 of the patients. In this study, we specifically searched for variants in 14 recently implicated novel neurodevelopmental disorder (NDD) genes. RESULTS: We identified 65 rare, protein-changing variants in 11 of these 14 novel candidate genes. Fourteen variants in CDK13, CHD4, KCNQ3, KMT5B, TCF20, and ZBTB18 were scored pathogenic or likely pathogenic. Of note, two of these patients had a previously identified cause of their disease, and thus, multiple molecular diagnoses were made including pathogenic/likely pathogenic variants in FOXG1 and CDK13 or in TMEM237 and KMT5B. CONCLUSIONS: Looking for pathogenic variants in newly identified NDD genes enabled us to provide a molecular diagnosis to 14 patients and their close relatives and caregivers. This underlines the relevance of re-evaluation of existing exome data on a regular basis to improve the diagnostic yield and serve the needs of our patients. En ligne : https://dx.doi.org/10.1186/s11689-019-9270-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 11 p.[article] Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders [Texte imprimé et/ou numérique] / J. TRINH, Auteur ; K. K. KANDASWAMY, Auteur ; M. WERBER, Auteur ; M. E. R. WEISS, Auteur ; G. OPREA, Auteur ; S. KISHORE, Auteur ; K. LOHMANN, Auteur ; A. ROLFS, Auteur . - 11 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 11 p.
Mots-clés : De novo variants Neurodevelopmental disorders Trio exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID). METHODS: Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language development, or ID according to Human Phenotype Ontology (HPO) terms. All patients had previously undergone whole exome sequencing as part of diagnostic genetic testing with a focus on variants in genes implicated in neurodevelopmental disorders up to January 2017. This resulted in a genetic diagnosis in 1336 of the patients. In this study, we specifically searched for variants in 14 recently implicated novel neurodevelopmental disorder (NDD) genes. RESULTS: We identified 65 rare, protein-changing variants in 11 of these 14 novel candidate genes. Fourteen variants in CDK13, CHD4, KCNQ3, KMT5B, TCF20, and ZBTB18 were scored pathogenic or likely pathogenic. Of note, two of these patients had a previously identified cause of their disease, and thus, multiple molecular diagnoses were made including pathogenic/likely pathogenic variants in FOXG1 and CDK13 or in TMEM237 and KMT5B. CONCLUSIONS: Looking for pathogenic variants in newly identified NDD genes enabled us to provide a molecular diagnosis to 14 patients and their close relatives and caregivers. This underlines the relevance of re-evaluation of existing exome data on a regular basis to improve the diagnostic yield and serve the needs of our patients. En ligne : https://dx.doi.org/10.1186/s11689-019-9270-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409