NGLY1-CDDG: report of two cases from India and brief review of literature

Abuduxikuer K., Zou L., Wang L., Chen L. and Wang J. S. 2020 Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. J. Hum. Genet. 65, 387–396

Article  CAS  PubMed  Google Scholar 

Bosch D. G. M., Boonstra F. N., de Leeuw N., Pfundt R., Nillesen W. M., de Ligt J. et al. 2016 Novel genetic causes for cerebral visual impairment. Eur. J. Hum. Genet. 24, 660–665

Article  CAS  PubMed  Google Scholar 

Brodsky J. L., McCracken A. A., Simons J. F., Dalley R. A., Swingle M., Fadool J. M. et al. 2012 Cleaning up: ER-associated degradation to the rescue. Cell 151, 1163–1167

Article  CAS  PubMed  PubMed Central  Google Scholar 

Caglayan A. O., Comu S., Baranoski J. F., Parman Y., Kaymakçalan H., Akgumus G. T. et al. 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur. J. Med. Genet. 58, 39–43

Article  PubMed  Google Scholar 

Chang C. A., Wei X. C., Martin S. R., Sinasac D. S. and Al-Hertani W. 2019 Transiently elevated plasma methionine, S-adenosylmethionine, and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. JIMD Rep. 49, 21–29

PubMed  PubMed Central  Google Scholar 

Dabaj I., Sudrié-Arnaud B., Lecoquierre F., Raymond K., Ducatez F., Guerrot A. M. et al. 2021 NGLY1 Deficiency: a rare newly described condition with a typical presentation. Life (Basel) 11, 187

PubMed  Google Scholar 

Dave M. B., Dherai A. J., Udani V. P., Hegde A. U., Desai N. A. and Ashavaid T. F. 2018 Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation. J. Clin. Lab. Anal. 32, e22167

Article  PubMed  Google Scholar 

Enns G. M., Shashi V., Bainbridge M., Gambello M. J., Zahir F. R., Bast T. et al. 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet. Med. 16, 751–758

Article  CAS  PubMed  PubMed Central  Google Scholar 

Francisco R., Brasil S., Poejo J., Jaeken J., Pascoal C., Videira P. A. et al. 2023 Congenital disorders of glycosylation (CDG): state of the art in 2022. Orphanet. J. Rare Dis. 18, 329

Article  PubMed  PubMed Central  Google Scholar 

Freeze H. H. 2013 Understanding human glycosylation disorders: biochemistry leads the charge. J. Biol. Chem. 288, 6936–6945

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fujihira H., Masahara-Negishi Y., Tamura M., Huang C., Harada Y., Wakana S. et al. 2017 Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene. PLoS Genet. 13, e1006696

Article  PubMed  PubMed Central  Google Scholar 

Ge H., Wu Q., Lu H., Huang Y., Zhou T., Tan D. et al. 2020 Two novel compound heterozygous mutations in NGLY1 as a cause of congenital disorder of deglycosylation: A case presentation. BMC Med. Genet. 21, 135

Article  CAS  PubMed  PubMed Central  Google Scholar 

Haijes H. A., de Sain-van der Velden M. G. M., Prinsen H. C. M. T., Willems A. P., van der Ham M., Gerrits J. et al. 2019 Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. Mol. Genet. Metab. 127, 368–372

Article  CAS  PubMed  Google Scholar 

Heeley J. and Shinawi M. 2015 Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations. Am. J. Med. Genet. a. 167A, 816–820

Article  PubMed  Google Scholar 

Kalfon L., Baydany M., Samra N., Heno N., Segal Z., Eran A. et al. 2022 Congenital hypotonia: cracking a SAGA of consanguineous kindred harboring four genetic variants. Mol. Genet. Genomic Med. 10, e1849

Article  CAS  PubMed  Google Scholar 

Kariminejad A., Shakiba M., Shams M., Namiranian P., Eghbali M., Talebi S. et al. 2021 NGLY1 deficiency: Novel variants and literature review. Eur. J. Med. Genet. 64, 104146

Article  CAS  PubMed  Google Scholar 

Lam C., Ferreira C., Krasnewich D., Toro C., Latham L., Zein W. M. et al. 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet. Med. 19, 160–168

Article  CAS  PubMed  Google Scholar 

Levy R. J., Frater C. H., Gallentine W. B., Phillips J. M. and Ruzhnikov M. R. 2022 Delineating the epilepsy phenotype of NGLY1 deficiency. J. Inherit. Metab. Dis.

Lipari Pinto P., Machado C., Janeiro P., Dupont J., Quintas S., Sousa A. B. et al. 2020 NGLY1 deficiency-A rare congenital disorder of deglycosylation. JIMD Rep. 53, 2–9

Google Scholar 

Lipiński P., Cielecka-Kuszyk J., Socha P. and Tylki-Szymańska A. 2020a Liver involvement in NGLY1 congenital disorder of deglycosylation. Pol. J. Pathol. 71, 66–68

Article  PubMed  Google Scholar 

Lipiński P., Bogdanska A., Rozdzynska-Swiatkowska A., Wierzbicka-Rucinska A. and Tylki-Szymanska A. 2020b NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm. JIMD Rep. 51, 82–88

PubMed  PubMed Central  Google Scholar 

Miao X., Wu J., Chen H. and Lu G. 2022 Comprehensive analysis of the structure and function of peptide:N-glycanase 1 and relationship with congenital disorder of deglycosylation. Nutrients 14, 1690

Article  CAS  PubMed  PubMed Central  Google Scholar 

Need A. C., Shashi V., Hitomi Y., Schoch K., Shianna K. V., McDonald M. T. et al. 2012 Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49, 353–361

Article  CAS  PubMed  Google Scholar 

Pandey A., Adams J. M., Han S. Y. and Jafar-Nejad H. 2022 NGLY1 Deficiency, a congenital disorder of deglycosylation: from disease gene function to pathophysiology. Cells 11, 1155

Article  CAS  PubMed  PubMed Central  Google Scholar 

Panneman D. M., Wortmann S. B., Haaxma C. A., van Hasselt P. M., Wolf N. I., Hendriks Y. et al. 2020 Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy, and mitochondrial dysfunction. Clin. Genet. 97, 556–566

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reily C., Stewart T. J., Renfrow M. B. and Novak J. 2019 Glycosylation in health and disease. Nat. Rev. Nephrol. 15, 346–366

Article  PubMed  PubMed Central  Google Scholar 

Rios-Flores I. M., Bonal-Pérez M. Á., Castellanos-González A., Velez-Gómez E., Bertoli-Avella A. M., Bobadilla-Morales L. et al. 2020 Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation. Eur. J. Med. Genet. 63, 103952

Article  PubMed  Google Scholar 

Stanclift C. R., Dwight S. S., Lee K., Eijkenboom Q. L., Wilsey M., Wilsey K. et al. 2022 NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. Orphanet J. Rare Dis. 17, 440

Article  PubMed  PubMed Central  Google Scholar 

Stuut T., Popescu O. and Oviedo A. 2021 N-Glycanase 1 Deficiency Is a rare cause of pediatric neurodegeneration with neuronal inclusions and liver steatosis. Cureus 13, e19126

PubMed  PubMed Central  Google Scholar 

van Keulen B. J., Rotteveel J. and Finken M. J. J. 2019 Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency. Physiol. Rep. 7, e13979

Article  PubMed  PubMed Central  Google Scholar 

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