Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

• Published in: Neuromuscular disorders : NMD Vol. 26; no. 11; pp. 744 - 748
• Main Authors: Ravenscroft, Gianina, Di Donato, Nataliya, Hahn, Gabriele, Davis, Mark R, Craven, Paul D, Poke, Gemma, Neas, Katherine R, Neuhann, Teresa M, Dobyns, William B, Laing, Nigel G
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.11.2016
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - genetics; Abnormalities, Multiple - therapy; Arthrogryposis; Arthrogryposis - diagnostic imaging; Arthrogryposis - genetics; Arthrogryposis - therapy; BICD2; Child, Preschool; Fatal Outcome; Fetal akinesia; Humans; Infant; Intellectual Disability - diagnostic imaging; Intellectual Disability - genetics; Intellectual Disability - therapy; Male; Malformations of Cortical Development - diagnostic imaging; Malformations of Cortical Development - genetics; Malformations of Cortical Development - therapy; Microtubule-Associated Proteins - genetics; Mutation; Neurology; Perisylvian polymicrogyria; Phenotype; arthrogryposis; fetal akinesia; BICD2; perisylvian polymicrogyria; Perisylvian polymicrogyria; Arthrogryposis; Fetal akinesia
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2016.09.009

Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1 , which encodes a BICD2 binding partner