ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Molecular Genetics & Genomic Medicine
M E de la Morena-BarrioJ Corral

Abstract

Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem defects usually with psychomotor delay that is diagnosed in the infancy. We aim to supply further evidences supporting that CDG may be underestimated. Antithrombin and factor XI were studied by chromogenic and coagulometric methods. Hypoglycosylation of plasma proteins was evaluated by western blot, HPLC, Q-TOF, and RP-LC-MRM-MS. Genetic analysis included whole exome, Sanger sequencing, and PCR-allele specific assay. We here present an intriguing patient with an exceptional phenotype: 25-year-old women with a ventricular septal defect and severe idiopathic scoliosis but no facial dysmorphism, who dances as a professional, and has a University degree. Congenital disorder of glycosylation diagnosis started through the identification of antithrombin deficiency without SERPINC1 defect and the detection of hypoglycosylated forms. Increased levels of hypoglycosylated forms of F XI (also with significant deficiency) and transferri...Continue Reading

References

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May 24, 2016·Journal of Thrombosis and Haemostasis : JTH·M E de la Morena-BarrioV Vicente
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Sep 19, 2019·Glycoconjugate Journal·Luisa SturialeRita Barone

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Citations

Oct 25, 2020·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Ana García-GarcíaLaia Alsina
Jan 15, 2021·Brain Sciences·Justyna PaprockaStephanie Grunewald
Mar 2, 2021·Glycoconjugate Journal·Gabriela Magali PapazogluCarla Gabriela Asteggiano
Jun 8, 2021·Brain & Development·Takuya HiraideHirotomo Saitsu
Sep 2, 2021·American Journal of Medical Genetics. Part a·Jana ZiburováPeter Baráth

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Methods Mentioned

BETA
glycosylation
exome sequencing
genotyping
X‐ray

Software Mentioned

VarAFT
Polyphen
Illumina Variant Studio
Human Splicing Finder

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