Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Char...
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
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Author / Creator
Cassini, Thomas A. , Rives, Lynette C. , Newman, John H. , Koziura, Mary E. , Hamid, Rizwan , Adams, Christopher , Adams, David , Alejandro, Mercedes , Allard, Patrick , Ashley, Euan , Bacino, Carlos , Balasubramanyam, Ashok , Barseghyan, Hayk , Bellen, Hugo , Boone, Braden , Bostwick, Bret , Briere, Lauren , Burke, Elizabeth , Burrage, Lindsay , Chao, Katherine , Clark, Gary , Dhar, Shweta , Donnell‐Fink, Laurel , Eckstein, David , Frisby, Trevor , Gartner, Valerie , Godfrey, Rena , Goheen, Mitchell , Golas, Gretchen , Goldstein, David , Gordon, Mary , Gould, Sarah , Gourdine, Jean‐Philippe , Hanchard, Neil , Handley, Lori , Herzog, Matthew , Holm, Ingrid , Howerton, Ellen , Jacob, Howard , Jain, Mahim , Jiang, Yong‐hui , Johnston, Jean , Jones, Angela , Koehler, Alanna , Kohler, Jennefer , Krier, Joel , Lalani, Seema , Latour, Yvonne , Lee, Brendan , Lee, Hane , Lee, Paul , Levy, Shawn , Lewis, Richard , Lincoln, Sharyn , Loscalzo, Joseph , Maas, Richard , MacRae, Calum , Malicdan, May Christine , Mamounas, Laura , McCarty, Alexandra , McCray, Alexa , Might, Matthew , Mulvihill, John , Murphy, Jennifer , Muzny, Donna , Nehrebecky, Michele , Nelson, Stan , Novacic, Donna , Carl Pallais, J , Posey, Jennifer , Potocki, Lorraine , Ramoni, Rachel , Rodan, Lance , Rosenfeld, Jill , Samson, Susan , Schaffer, Katherine , Sharma, Prashant , Shashi, Vandana , Silverman, Edwin , Soldatos, Ariane , Spillmann, Rebecca , Splinter, Kimberly , Stoler, Joan , Stong, Nicholas , Strong, Kimberly , Sullivan, Jennifer , Tifft, Cynthia , Vilain, Eric , Vogel, Tiphanie , Waggott, Daryl , Wahl, Colleen , Waters, Katrina , Webb‐Robertson, Bobbie‐Jo , Westerfield, Monte , Wheeler, Matthew , Wise, Anastasia , Wolfe, Lynne , Worthey, Elizabeth , Yamamoto, Shinya , Yang, Yaping and Undiagnosed Diseases Network
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 inheritance patterns.
Methods and Results
An 11‐y...
Alternative Titles
Full title
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
Authors, Artists and Contributors
Author / Creator
Rives, Lynette C.
Newman, John H.
Koziura, Mary E.
Hamid, Rizwan
Adams, Christopher
Adams, David
Alejandro, Mercedes
Allard, Patrick
Ashley, Euan
Bacino, Carlos
Balasubramanyam, Ashok
Barseghyan, Hayk
Bellen, Hugo
Boone, Braden
Bostwick, Bret
Briere, Lauren
Burke, Elizabeth
Burrage, Lindsay
Chao, Katherine
Clark, Gary
Dhar, Shweta
Donnell‐Fink, Laurel
Eckstein, David
Frisby, Trevor
Gartner, Valerie
Godfrey, Rena
Goheen, Mitchell
Golas, Gretchen
Goldstein, David
Gordon, Mary
Gould, Sarah
Gourdine, Jean‐Philippe
Hanchard, Neil
Handley, Lori
Herzog, Matthew
Holm, Ingrid
Howerton, Ellen
Jacob, Howard
Jain, Mahim
Jiang, Yong‐hui
Johnston, Jean
Jones, Angela
Koehler, Alanna
Kohler, Jennefer
Krier, Joel
Lalani, Seema
Latour, Yvonne
Lee, Brendan
Lee, Hane
Lee, Paul
Levy, Shawn
Lewis, Richard
Lincoln, Sharyn
Loscalzo, Joseph
Maas, Richard
MacRae, Calum
Malicdan, May Christine
Mamounas, Laura
McCarty, Alexandra
McCray, Alexa
Might, Matthew
Mulvihill, John
Murphy, Jennifer
Muzny, Donna
Nehrebecky, Michele
Nelson, Stan
Novacic, Donna
Carl Pallais, J
Posey, Jennifer
Potocki, Lorraine
Ramoni, Rachel
Rodan, Lance
Rosenfeld, Jill
Samson, Susan
Schaffer, Katherine
Sharma, Prashant
Shashi, Vandana
Silverman, Edwin
Soldatos, Ariane
Spillmann, Rebecca
Splinter, Kimberly
Stoler, Joan
Stong, Nicholas
Strong, Kimberly
Sullivan, Jennifer
Tifft, Cynthia
Vilain, Eric
Vogel, Tiphanie
Waggott, Daryl
Wahl, Colleen
Waters, Katrina
Webb‐Robertson, Bobbie‐Jo
Westerfield, Monte
Wheeler, Matthew
Wise, Anastasia
Wolfe, Lynne
Worthey, Elizabeth
Yamamoto, Shinya
Yang, Yaping
Undiagnosed Diseases Network
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_543407e7f2284fc6872bb9f21efa0c98
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_543407e7f2284fc6872bb9f21efa0c98
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.676
