Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
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Author / Creator
Genomics England Research Consortium , Undiagnosed Diseases Network , Cousin, Margot A. , Creighton, Blake A. , Breau, Keith A. , Spillmann, Rebecca C. , Torti, Erin , Dontu, Sruthi , Tripathi, Swarnendu , Ajit, Deepa , Edwards, Reginald J. , Afriyie, Simone , Bay, Julia C. , Harper, Kathryn M. , Beltran, Alvaro A. , Munoz, Lorena J. , Falcon Rodriguez, Liset , Stankewich, Michael C. , Person, Richard E. , Si, Yue , Normand, Elizabeth A. , Blevins, Amy , May, Alison S. , Bier, Louise , Aggarwal, Vimla , Mancini, Grazia M. S. , van Slegtenhorst, Marjon A. , Cremer, Kirsten , Becker, Jessica , Engels, Hartmut , Aretz, Stefan , MacKenzie, Jennifer J. , Brilstra, Eva , van Gassen, Koen L. I. , van Jaarsveld, Richard H. , Oegema, Renske , Parsons, Gretchen M. , Mark, Paul , Helbig, Ingo , McKeown, Sarah E. , Stratton, Robert , Cogne, Benjamin , Isidor, Bertrand , Cacheiro, Pilar , Smedley, Damian , Firth, Helen V. , Bierhals, Tatjana , Kloth, Katja , Weiss, Deike , Fairley, Cecilia , Shieh, Joseph T. , Kritzer, Amy , Jayakar, Parul , Kurtz-Nelson, Evangeline , Bernier, Raphael A. , Wang, Tianyun , Eichler, Evan E. , van de Laar, Ingrid M. B. H. , McConkie-Rosell, Allyn , McDonald, Marie T. , Kemppainen, Jennifer , Lanpher, Brendan C. , Schultz-Rogers, Laura E. , Gunderson, Lauren B. , Pichurin, Pavel N. , Yoon, Grace , Zech, Michael , Jech, Robert , Winkelmann, Juliane , Beltran, Adriana S. , Zimmermann, Michael T. , Temple, Brenda , Moy, Sheryl S. , Klee, Eric W. , Tan, Queenie K.-G. and Lorenzo, Damaris N.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
SPTBN1
encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, s...
Alternative Titles
Full title
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Authors, Artists and Contributors
Author / Creator
Undiagnosed Diseases Network
Cousin, Margot A.
Creighton, Blake A.
Breau, Keith A.
Spillmann, Rebecca C.
Torti, Erin
Dontu, Sruthi
Tripathi, Swarnendu
Ajit, Deepa
Edwards, Reginald J.
Afriyie, Simone
Bay, Julia C.
Harper, Kathryn M.
Beltran, Alvaro A.
Munoz, Lorena J.
Falcon Rodriguez, Liset
Stankewich, Michael C.
Person, Richard E.
Si, Yue
Normand, Elizabeth A.
Blevins, Amy
May, Alison S.
Bier, Louise
Aggarwal, Vimla
Mancini, Grazia M. S.
van Slegtenhorst, Marjon A.
Cremer, Kirsten
Becker, Jessica
Engels, Hartmut
Aretz, Stefan
MacKenzie, Jennifer J.
Brilstra, Eva
van Gassen, Koen L. I.
van Jaarsveld, Richard H.
Oegema, Renske
Parsons, Gretchen M.
Mark, Paul
Helbig, Ingo
McKeown, Sarah E.
Stratton, Robert
Cogne, Benjamin
Isidor, Bertrand
Cacheiro, Pilar
Smedley, Damian
Firth, Helen V.
Bierhals, Tatjana
Kloth, Katja
Weiss, Deike
Fairley, Cecilia
Shieh, Joseph T.
Kritzer, Amy
Jayakar, Parul
Kurtz-Nelson, Evangeline
Bernier, Raphael A.
Wang, Tianyun
Eichler, Evan E.
van de Laar, Ingrid M. B. H.
McConkie-Rosell, Allyn
McDonald, Marie T.
Kemppainen, Jennifer
Lanpher, Brendan C.
Schultz-Rogers, Laura E.
Gunderson, Lauren B.
Pichurin, Pavel N.
Yoon, Grace
Zech, Michael
Jech, Robert
Winkelmann, Juliane
Beltran, Adriana S.
Zimmermann, Michael T.
Temple, Brenda
Moy, Sheryl S.
Klee, Eric W.
Tan, Queenie K.-G.
Lorenzo, Damaris N.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8273149
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8273149
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/s41588-021-00886-z
