期刊
CLINICAL GENETICS
卷 100, 期 3, 页码 318-323出版社
WILEY
DOI: 10.1111/cge.13980
关键词
autosomal recessive inheritance; cardinal features; COG1; congenital disorders of glycosylation; serum transferrin isoelectric focusing
资金
- Catholic University of Cordoba 2017-2020
- CONICET PIP 2017-2021
- grants for Neurological and Psychiatric Disorders of NCNP from Japanese Ministry of Health, Labour and Welfare [30-6, 30-7]
- Japan Agency for Medical Research and Development [JP20dm0107090, JP20ek0109301, JP20ek0109348, JP20ek0109486]
- Japan Society for the Promotion of Science [JP17H01539, JP19H03621]
- MinCyT FONCyT PID Clinico 2019-228-APNDAN-PCYT [ANPCYT]
- Takeda Science Foundation
Congenital disorders of glycosylation (CDG) are a group of genetic defects involving glycoprotein and glycolipid glycan synthesis. COG1-CDG, caused by defects in the COG1 gene, has been reported in five patients, including the case presented in this report.
Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex encoded by eight genes, COG1-COG8. Pathogenic variants in all genes except the COG3 gene have been reported. COG1-CDG has been reported in five patients. We report a male with neonatal seizures, dysmorphism, hepatitis and a type 2 serum transferrin isoelectrofocusing. Exome sequencing identified a homozygous COG1 variant (NM_018714.3: c.2665dup: p.[Arg889Profs*12]), which has been reported previously in one patient. We review the reported patients.
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