INVESTIGADORES
ASTEGGIANO Carla Gabriela
artículos
Título:
COG1-congenital disorders of glycosylation: Milder presentation and review
Autor/es:
MARNE SALAZAR; NORIKO MIYAKE; SEBASTIAN SILVA; BENJAMÍN SOLAR; GABRIELA M. PAPAZOGLU; CARLA G. ASTEGGIANO; NAOMICHI MATSUMOTO
Revista:
CLINICAL GENETICS
Editorial:
WILEY-BLACKWELL PUBLISHING, INC
Referencias:
Lugar: Londres; Año: 2021
ISSN:
0009-9163
Resumen:
Congenital disorders of glycosylation (CDG) are a heterogeneous group of geneticdefects 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 beenreported. COG1-CDG has been reported in five patients. We report a male with neonatalseizures, 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 thereported patients.
