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ALG11‐CDG syndrome: Expanding the phenotype |
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| Authors: | Natalie M. Gallant Kathryn E. Singh Candida Brown Virginia Kimonis Eric A. Muller II |
| Affiliation: | 1. Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, School of Medicine, Irvine, California;2. Division of Genetics, Miller Children's and Women's Hospital, Long Beach, California;3. Child Neurology, Stanford Children's Health, Palo Alto, California;4. https://orcid.org/0000-0002-8265-3368;5. Clinical Genetics, Stanford Children's Health, Palo Alto, CaliforniaShared senior authors. Eric Muller II, Clinical Genetics,;6. Stanford Children's Health, Palo Alto, CA, USA. |
| Abstract: | ALG11‐Congenital Disorder of Glycosylation (ALG11‐CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11‐CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Their fibroblasts synthesized truncated precursor glycan structures, consistent with ALG11‐CDG, while also showing hypoglycosylation of a novel biomarker, GP130. Surprisingly, one patient presented with normal transferrin glycosylation profile, a feature that has not been reported previously in patients with ALG11‐CDG. Together, our data expand the clinical and mutational spectrum of ALG11‐CDG. |
| Keywords: | ALG11 CDG GP130 intellectual disability LLO |