Please use this identifier to cite or link to this item:
https://dora.health.qld.gov.au/qldresearchjspui/handle/1/4610| Title: | SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals | Authors: | Gahl, William A. Mignot, Cyril Mirzaa, Ghayda Mitchell, Wendy Muhle, Hiltrud Nelson, Stanley F. Olczak, Mariusz Palmer, Christina G. S. Partikian, Arthur Patterson, Marc C. Pierson, Tyler M. Quinonez, Shane C. Regan, Brigid M. Ross, M. Elizabeth Guillen Sacoto, Maria J. Scaglia, Fernando Scheffer, Ingrid E. Segal, Devorah Singhal, Nilika Shah Striano, Pasquale Sturiale, Luisa Symonds, Joseph D. Tang, Sha Vilain, Eric Willis, Mary Wolfe, Lynne A. Yang, Hui Yano, Shoji Powis, Zöe Suchy, Sharon F. Rosenfeld, Jill A. Edmondson, Andrew C. Grunewald, Stephanie Freeze, Hudson H. Coman, David Ng, Bobby G. Sosicka, Paulina Agadi, Satish Almannai, Mohammed Bacino, Carlos A. Barone, Rita Botto, Lorenzo D. Burton, Jennifer E. Carlston, Colleen Chung, Brian Hon-Yin Cohen, Julie S. Dipple, Katrina M. Dorrani, Naghmeh Dobyns, William B. Elias, Abdallah F. Epstein, Leon Garozzo, Domenico Hammer, Trine Bjørg Haven, Jaclyn Héron, Delphine Herzog, Matthew Hoganson, George E. Hunter, Jesse M. Jain, Mahim Juusola, Jane Lakhani, Shenela Lee, Hane Lee, Joy Lewis, Katherine Longo, Nicola Lourenço, Charles Marques Mak, Christopher C. Y. McKnight, Dianalee Mendelsohn, Bryce A. |
Issue Date: | 2019 | Source: | 40, (7), 2019, p. 908-925 | Pages: | 908-925 | Journal: | Human mutation | Abstract: | Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin N-glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2-CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wild-type to mutant alleles in fibroblasts from affected individuals. (© 2019 Wiley Periodicals, Inc.)Biochim Biophys Acta. 2006 Jan;1763(1):82-92. (PMID: 16434112); J Inherit Metab Dis. 2015 Sep;38(5):931-40. (PMID: 25778940); J Biochem. 1996 Aug;120(2):236-41. (PMID: 8889805); J Biol Chem. 1995 Jan 13;270(2):756-64. (PMID: 7822307); Gene Expr Patterns. 2006 Apr;6(4):376-82. (PMID: 16412699); Lancet Neurol. 2012 May;11(5):453-66. (PMID: 22516080); Somat Cell Mol Genet. 1993 Nov;19(6):571-5. (PMID: 8128316); Glycobiology. 1996 Jan;6(1):7-13. (PMID: 8991512); Nature. 2017 Nov 23;551(7681):521-524. (PMID: 29143814); J Inherit Metab Dis. 2018 May;41(3):541-553. (PMID: 29654385); Nat Neurosci. 2016 Sep;19(9):1194-6. (PMID: 27479843); Ann Neurol. 2018 Jun;83(6):1133-1146. (PMID: 29679388); Glycoconj J. 2011 Oct;28(7):481-92. (PMID: 21894462); FEBS Lett. 2011 Oct 3;585(19):3090-4. (PMID: 21889501); J Biochem. 1996 Dec;120(6):1074-8. (PMID: 9010752); Biochim Biophys Acta Mol Cell Res. 2017 May;1864(5):825-838. (PMID: 28167211); J Biol Chem. 2001 Jul 13;276(28):26291-300. (PMID: 11319223); Nat Protoc. 2015 Jun;10(6):845-58. (PMID: 25950237); J Biol Chem. 1997 Oct 10;272(41):25608-16. (PMID: 9325281); J Biochem. 1999 Dec;126(6):1107-17. (PMID: 10578063); J Biol Chem. 1996 Feb 16;271(7):3897-901. (PMID: 8632010); Biochim Biophys Acta. 2009 Sep;1792(9):827-34. (PMID: 19272306); Clin Chem. 2001 Mar;47(3):513-8. (PMID: 11238305); Int J Mol Sci. 2019 Jan 11;20(2):. (PMID: 30641943); J Biol Chem. 1988 Nov 5;263(31):16283-90. (PMID: 3141404); Mol Cell Biol. 1981 Aug;1(8):687-96. (PMID: 9279382); J Biol Chem. 2014 Mar 7;289(10):6751-61. (PMID: 24407290); Anal Biochem. 2013 Nov 15;442(2):178-85. (PMID: 23928051); Annu Rev Genet. 2018 Nov 23;52:535-566. (PMID: 30256677); Glycobiology. 1996 Mar;6(2):177-89. (PMID: 8727790); Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3323-7. (PMID: 7724561); Neurol Genet. 2018 Dec 05;4(6):e294. (PMID: 30584598); Electrophoresis. 2018 Dec;39(24):3123-3132. (PMID: 29869806); Glycoconj J. 2001 Aug;18(8):623-33. (PMID: 12376727); Biochem Biophys Res Commun. 2014 Nov 28;454(4):486-92. (PMID: 25451267); Am J Hum Genet. 2014 Oct 2;95(4):360-70. (PMID: 25262651); Trends Genet. 2018 Jun;34(6):466-476. (PMID: 29606283); Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):7888-92. (PMID: 9653110); Nat Genet. 2014 Mar;46(3):310-5. (PMID: 24487276); J Med Genet. 2001 Jan;38(1):14-9. (PMID: 11134235); Am J Hum Genet. 1992 Dec;51(6):1229-39. (PMID: 1281384); Nat Rev Genet. 2006 Jul;7(7):537-51. (PMID: 16755287); Am J Hum Genet. 2013 Apr 4;92(4):632-6. (PMID: 23561849); Annu Rev Neurosci. 2015 Jul 8;38:105-25. (PMID: 25840006); Hum Mutat. 2013 Dec;34(12):1708-14. (PMID: 24115232); Cell. 1984 Dec;39(2 Pt 1):295-9. (PMID: 6498937); BMC Med Genet. 2018 Jun 15;19(1):100. (PMID: 29907092); Eur J Hum Genet. 2016 May;24(5):660-5. (PMID: 26350515); J Biol Chem. 1993 Aug 5;268(22):16139-54. (PMID: 8344899); Brain Dev. 2017 Mar;39(3):256-260. (PMID: 27743886). Linking ISSN: 10597794. Subset: MEDLINE; Grant Information: U01 HG007690 United States HG NHGRI NIH HHS; 1R01NS058721 International NIH (NINDS); U54 HD090257 United States HD NICHD NIH HHS; U01 HG007674 United States HG NHGRI NIH HHS; U01 HG007672 United States HG NHGRI NIH HHS; K08 NS092898 United States NS NINDS NIH HHS; U01 HG007943 United States HG NHGRI NIH HHS; 5R01NS050375 International NIH (NINDS); T32 GM008638 United States GM NIGMS NIH HHS; R01 NS050375 United States NS NINDS NIH HHS; U01 HG007708 United States HG NHGRI NIH HHS; U01 TR001395 United States TR NCATS NIH HHS; U01 HG007709 United States HG NHGRI NIH HHS; 2016/21/B/NZ5/00144 International National Science Center; International The Rocket Fun ; U54 NS093793 United States NS NINDS NIH HHS; U01 HG007530 United States HG NHGRI NIH HHS; R01 DK099551 United States DK NIDDK NIH HHS; U01 HG007703 United States HG NHGRI NIH HHS; R01 NS058721 United States NS NINDS NIH HHS; U01 HG007942 United States HG NHGRI NIH HHS; R01DK099551 International National Institutes of Health (NIH) Date of Electronic Publication: 2019 Apr 24. ; Original Imprints: Publication: New York : Wiley-Liss, c1992- | DOI: | 10.1002/humu.23731 | Resources: | https://search.ebscohost.com/login.aspx?direct=true&AuthType=ip,athens&db=mdc&AN=30817854&site=ehost-live | Keywords: | nucleotide sugar transporter*;Humans;Male;Mutation;UDP-galactose*;congenital disorders of glycosylation*;glycoside*;Congenital Disorders of Glycosylation/pathology;Cricetulus;Female;Congenital Disorders of Glycosylation/*geneticsMonosaccharide Transport Proteins/*genetics;Monosaccharide Transport Proteins/*metabolism;Uridine Diphosphate Galactose/*metabolism;Animals;Biopsy;CHO Cells;Cells, Cultured;Congenital Disorders of Glycosylation/metabolism | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications |
Show full item record
Items in DORA are protected by copyright, with all rights reserved, unless otherwise indicated.