دورية أكاديمية
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
| العنوان: | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. |
|---|---|
| المؤلفون: | Alsharhan H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chen J; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Clinical Teaching Unit, St. George's University, St. George's, Grenada., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia., Jones EA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Vassallo G; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation Trust, Manchester, UK., Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France., Cogné B; Service de génétique médicale, CHU de Nantes, Nantes, France., Deb W; Service de génétique médicale, CHU de Nantes, Nantes, France., Werners AH; Department of Anatomy, Physiology and Pharmacology, St. George University School of Veterinary Medicine, St. George's, Grenada., Jin SC; Department of Genetics and Pediatrics, Washington University, St. Louis, Missouri, USA., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia., Webster RI; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Yearwood KR; St. George's University, University Health Services, St. George's, Grenada., Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada. |
| المصدر: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 1001-1012. Date of Electronic Publication: 2021 Mar 26. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2019- : [Hoboken, NJ] : Wiley Original Publication: [Lancaster, Eng.] MTP Press. |
| مواضيع طبية MeSH: | Congenital Disorders of Glycosylation/*genetics , Intellectual Disability/*physiopathology , N-Acetylglucosaminyltransferases/*genetics, Congenital Disorders of Glycosylation/physiopathology ; Female ; Genetic Variation ; Glycosylation ; Humans ; Intellectual Disability/genetics ; Male ; Phenotype ; Transferrin/metabolism |
| مستخلص: | Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual disability, infantile spasms, and epileptic encephalopathy. Girls with a recurrent de novo c.3013C>T; p.(Asn107Ser) variant have normal transferrin glycosylation. Using a highly sensitive, semi-quantitative flow injection-electrospray ionization-quadrupole time-of-flight mass spectrometry (ESI-QTOF/MS) N-glycan assay, we report subtle abnormalities in N-glycans that normally account for <0.3% of the total plasma glycans that may increase up to 0.5% in females with the p.(Asn107Ser) variant. Among our 11 unrelated ALG13-CDG individuals, one male had abnormal serum transferrin glycosylation. We describe seven previously unreported subjects including three novel variants in ALG13 and report a milder neurodevelopmental course. We also summarize the molecular, biochemical, and clinical data for the 53 previously reported ALG13-CDG individuals. We provide evidence that ALG13 pathogenic variants may mildly alter N-linked protein glycosylation in both female and male subjects, but the underlying mechanism remains unclear. (© 2021 SSIEM.) |
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| معلومات مُعتمدة: | T32 GM008638 United States GM NIGMS NIH HHS; UL1 TR001863 United States TR NCATS NIH HHS; R00 HL143036 United States HL NHLBI NIH HHS; United Kingdom WT_ Wellcome Trust; UM1 HG006504 United States HG NHGRI NIH HHS; U54 NS115198 United States NS NINDS NIH HHS; R01 DK099551 United States DK NIDDK NIH HHS; U24 HG008956 United States HG NHGRI NIH HHS |
| فهرسة مساهمة: | Keywords: N-glycans; carbohydrate deficient transferrin; congenital disorders of glycosylation; epilepsy; exome sequencing; mass spectrometry |
| المشرفين على المادة: | 0 (Transferrin) EC 2.4.1.- (ALG13 protein, human) EC 2.4.1.- (N-Acetylglucosaminyltransferases) |
| تواريخ الأحداث: | Date Created: 20210318 Date Completed: 20220117 Latest Revision: 20221005 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC8720508 |
| DOI: | 10.1002/jimd.12378 |
| PMID: | 33734437 |
| قاعدة البيانات: | MEDLINE |
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