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dc.contributor.author
Ng, Bobby G.
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dc.contributor.author
Eklund, Erik A.
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Shiryaev, Sergey A.
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Dong, Yin Y.
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Abbott, Mary Alice
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Asteggiano, Carla Gabriela
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dc.contributor.author
Bamshad, Michael J.
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Barr, Eileen
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Bernstein, Jonathan A.
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Chelakkadan, Shabeed
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Christodoulou, John
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Chung, Wendy K.
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Ciliberto, Michael A.
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Cousin, Janice
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Gardiner, Fiona
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Ghosh, Suman
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Graf, William D.
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Grunewald, Stephanie
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Hammond, Katherine
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Hauser, Natalie S.
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Hoganson, George E.
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Houck, Kimberly M.
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Kohler, Jennefer N.
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Morava, Eva
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Larson, Austin A.
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Liu, Pengfei
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Madathil, Sujana
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McCormack, Colleen
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Meeks, Naomi J.L.
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Papazoglu, Gabriela Magali
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dc.date.available
2021-05-06T02:33:06Z
dc.date.issued
2020-11
dc.identifier.citation
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary Alice; et al.; Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions; Springer; Journal Of Inherited Metabolic Disease; 43; 6; 11-2020; 1333-1348
dc.identifier.issn
0141-8955
dc.identifier.uri
http://hdl.handle.net/11336/131439
dc.description.abstract
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation. Structural homology modeling of two recurrent de novo variants, p.A81T and p.N107S, suggests both are likely to impact the function of ALG13. Using a corresponding ALG13-deficient yeast strain, we show that expressing yeast ALG13 with either of the highly conserved hotspot variants rescues the observed growth defect, but not its glycosylation abnormality. We present molecular and clinical data on 29 previously unreported individuals with de novo variants in ALG13. This more than doubles the number of known cases. A key finding is that a vast majority of the individuals presents with West syndrome, a feature shared with other CDG types. Among these, the initial epileptic spasms best responded to adrenocorticotropic hormone or prednisolone, while clobazam and felbamate showed promise for continued epilepsy treatment. A ketogenic diet seems to play an important role in the treatment of these individuals.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Springer
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CONGENITAL DISORDERS OF GLYCOSYLATION
dc.subject
EPILEPSY
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N-LINKED GLYCOSYLATION
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WHOLE EXOME SEQUENCING
dc.subject.classification
Bioquímica y Biología Molecular
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Ciencias Biológicas
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CIENCIAS NATURALES Y EXACTAS
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dc.title
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2021-04-28T22:00:46Z
dc.journal.volume
43
dc.journal.number
6
dc.journal.pagination
1333-1348
dc.journal.pais
Alemania
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dc.description.fil
Fil: Ng, Bobby G.. Sanford Burnham Prebys Medical Discovery Institute; Estados Unidos
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Fil: Eklund, Erik A.. Sanford Burnham Prebys Medical Discovery Institute; Estados Unidos. Lund University; Suecia
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Fil: Shiryaev, Sergey A.. Sanford Burnham Prebys Medical Discovery Institute; Estados Unidos
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Fil: Dong, Yin Y.. University of Oxford; Reino Unido
dc.description.fil
Fil: Abbott, Mary Alice. University of Massachusetts Medical School; Estados Unidos
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Fil: Asteggiano, Carla Gabriela. Universidad Católica de Córdoba; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
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Fil: Bamshad, Michael J.. University of Washington; Estados Unidos
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Fil: Barr, Eileen. University of Emory; Estados Unidos
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Fil: Bernstein, Jonathan A.. University of Stanford; Estados Unidos
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Fil: Chelakkadan, Shabeed. Monash Children's Hospital; Australia
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Fil: Christodoulou, John. Sydney Medical School; Australia. University of Melbourne; Australia
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Fil: Chung, Wendy K.. Columbia University; Estados Unidos
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Fil: Ciliberto, Michael A.. University of Iowa; Estados Unidos
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Fil: Cousin, Janice. National Human Genome Research Institute ; Estados Unidos
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Fil: Gardiner, Fiona. University of Melbourne; Australia
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Fil: Ghosh, Suman. University of Florida; Estados Unidos
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Fil: Graf, William D.. University of Connecticut; Estados Unidos
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Fil: Grunewald, Stephanie. University College London; Estados Unidos
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Fil: Hammond, Katherine. University of Alabama at Birmingahm; Estados Unidos
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Fil: Hauser, Natalie S.. Inova, Fairfax Hospital Falls Church; Estados Unidos
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Fil: Hoganson, George E.. University Of Illinois At Chicago; Estados Unidos
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Fil: Houck, Kimberly M.. Baylor College of Medicine; Estados Unidos
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Fil: Kohler, Jennefer N.. University of Stanford; Estados Unidos
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Fil: Morava, Eva. Mayo Clinic; Estados Unidos
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Fil: Larson, Austin A.. University Of Colorado Anschutz Medical Campus.; Estados Unidos
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Fil: Liu, Pengfei. Baylor Genetics; Estados Unidos. Baylor College Of Medicine; Estados Unidos
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Fil: Madathil, Sujana. University of Iowa; Estados Unidos
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Fil: McCormack, Colleen. University of Stanford; Estados Unidos
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Fil: Meeks, Naomi J.L.. University Of Colorado Anschutz Medical Campus.; Estados Unidos
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Fil: Papazoglu, Gabriela Magali. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
dc.journal.title
Journal Of Inherited Metabolic Disease
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/jimd.12290
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/jimd.12290
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