Exome sequence identified a c.320A \textgreater G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.

Exome sequence identified a c.320A \textgreater G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.

Hamici Sana; Bastaki Fatma; Khalifa Mohamed

European journal of medical genetics

2017

2017-10

Congenital Disorders of Glycosylation (CDG) are new and rapidly expanding neurometabolic disorders with multisystem involvements, broad phenotypic manifestations, and variable severity. The majority results from a defect of one of the steps involved with protein or lipid N-glycosylation pathway. Almost all are inherited in autosomal recessive patterns with a few exceptions such as the

*Mutation; *X Chromosome Inactivation; ALG13; CDG Is; Child; Congenital disorder of glycosylation; Congenital Disorders of Glycosylation/diagnosis/*genetics; Exome; Female; Glycosylation; Heterozygote; Humans; Infant; Infantile/diagnosis/*genetics; Mental Retardation; Missense; N-Acetylglucosaminyltransferases/*genetics; Post-Translational; Preschool; Protein Processing; Spasms; Syndrome; Transferrin/metabolism; X-inactivation; X-Linked/diagnosis/*genetics

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

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