De novo missense variants in the rap1b ...
Type de document :
Article dans une revue scientifique: Article original
DOI :
PMID :
URL permanente :
Titre :
De novo missense variants in the rap1b gene identified in two patients with syndromic thrombocytopenia
Auteur(s) :
Niemann, Jan Hendrik [Auteur]
Du, Chen [Auteur]
Morlot, Susanne [Auteur]
Schmidt, Gunnar [Auteur]
Auber, Bernd [Auteur]
Kaune, Beate [Auteur]
Gohring, Gudrun [Auteur]
Ripperger, Tim [Auteur]
Schlegelberger, Brigitte [Auteur]
Hofmann, Winfried [Auteur]
Smol, Thomas [Auteur]
Ait-Yahya, Emilie [Auteur]
Raimbault, Anna [Auteur]
Lambilliotte, Anne [Auteur]
Petit, Florence [Auteur]
Steinemann, Doris [Auteur]
Du, Chen [Auteur]
Morlot, Susanne [Auteur]
Schmidt, Gunnar [Auteur]
Auber, Bernd [Auteur]
Kaune, Beate [Auteur]
Gohring, Gudrun [Auteur]
Ripperger, Tim [Auteur]
Schlegelberger, Brigitte [Auteur]
Hofmann, Winfried [Auteur]
Smol, Thomas [Auteur]
Ait-Yahya, Emilie [Auteur]
Raimbault, Anna [Auteur]
Lambilliotte, Anne [Auteur]
Petit, Florence [Auteur]
Steinemann, Doris [Auteur]
Titre de la revue :
Clinical Genetics
Nom court de la revue :
Clin. Genet.
Date de publication :
2020-07-06
ISSN :
1399-0004
Mot(s)-clé(s) :
thrombocytopenia
RAP1B
pancytopenia
microcephaly
malformations
learning difficulties
Kabuki syndrome
RAP1B
pancytopenia
microcephaly
malformations
learning difficulties
Kabuki syndrome
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous ...
Lire la suite >We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions. We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism.Lire moins >
Lire la suite >We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions. We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:02:34Z