A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Abstract Background Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases, usually due to paternal gonadal mutations. This case...

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Bibliographic Details
Main Authors: Claudia Santoro, Teresa Giugliano, Pia Bernardo, Federica Palladino, Annalaura Torella, Francesca del Vecchio Blanco, Maria Elena Onore, Marco Carotenuto, Vincenzo Nigro, Giulio Piluso
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Neurology
Subjects:
Neurofibromatosis type 1
RAB39B
X-linked intellectual disability
Autism
Parkinson’s disease
Case report
Online Access:http://link.springer.com/article/10.1186/s12883-020-01911-0

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http://link.springer.com/article/10.1186/s12883-020-01911-0

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