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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Sep; Vol. 185 (9), pp. 2739-2747. Date of Electronic Publication: 2021 May 07. - Publication Year :
- 2021
-
Abstract
- The pathophysiology of congenital defects of glycosylation (CDG) is complex and the diagnosis has been a challenge because of the overlapping clinical signs and symptoms as well as a large number of disorders. Isoelectric focusing of transferrin has been used as a screening method but has limitations. Individual enzyme or molecular genetic tests have been difficult to perform. In this study, we aimed to describe CDG patients who were referred to from different departments either without a preliminary diagnosis or suspected to have a genetic disorder other than CDG. The patients were diagnosed mainly with a 450 gene next-generation DNA sequencing panel for inborn errors of metabolism, which also included 25 genes for CDG. A total of 862 patients were investigated with the panel, whereby homozygous (10) or compound heterozygous (4) mutations were found in a total of 14 (1.6%) patients. A total of 13 different mutations were discovered, 10 of them being novel. Interestingly, none of the patients was suspected to have a CDG before referral. This report expands the clinical/laboratory findings in patients with CDG and stresses on the fact that CDG should be in the differential list for pediatric patients presented with nonspecific dysmorphic features and neurological delays/regression. Also, next-generation DNA sequencing with panel approach was noticed to have a significant diagnostic potential in patients presented with nonspecific neurologic and dysmorphic findings.<br /> (© 2021 Wiley Periodicals LLC.)
- Subjects :
- Abnormalities, Multiple genetics
Child
Child, Preschool
Congenital Disorders of Glycosylation complications
Congenital Disorders of Glycosylation genetics
Female
Glycosylation
Humans
Infant
Male
Nervous System Diseases complications
Nervous System Diseases genetics
Abnormalities, Multiple diagnosis
Congenital Disorders of Glycosylation diagnosis
Genetic Markers
High-Throughput Nucleotide Sequencing methods
Mutation
Nervous System Diseases diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 185
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 33960646
- Full Text :
- https://doi.org/10.1002/ajmg.a.62247