Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Abstract Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy. Over 40 different genes are associated with CMT, with different possible...

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Bibliographic Details
Main Authors: Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Charcot‐Marie‐Tooth
IGHMBP2
intron
splicing
Undiagnosed Disease Network
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.676

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