Expanding the clinical spectrum of recessive truncating mutations of to a Bohring-Opitz-like phenotype.

Date publication

décembre 2017

Journal

Journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence

Tous les auteurs :
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/29074562

Résumé

Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity.

Mots clés

Autoantigens, genetics, Brain, abnormalities, Child, Preschool, Craniosynostoses, diagnosis, Facies, Female, Genes, Recessive, Genetic Association Studies, Humans, Infant, Intellectual Disability, diagnosis, Magnetic Resonance Imaging, Male, Mutation, Phenotype, Young Adult

Référence

J. Med. Genet.. 2017 Dec;54(12):830-835