title: SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
abstract: Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis. We present the features of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement. We compare that to 13 affected individuals from the literature including five adults allowing us to delineate the features that may develop over time with this disorder including kyphosis, retinitis pigmentosa, and cataracts. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Nemours Children's Clinic, Orlando, Florida.
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Wheeler
authors.affiliation: Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.
authors.forename: Bobby G
authors.initials: BG
authors.lastname: Ng
authors.affiliation: Nemours Children's Clinic, Orlando, Florida.
authors.forename: Laura
authors.initials: L
authors.lastname: Sanford
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.affiliation: Section of Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio.
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Bartholomew
authors.affiliation: Section of Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Pastore
authors.affiliation: Department of Genome Sciences, University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington.|Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bamshad
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: Martin
authors.initials: M
authors.lastname: Kircher
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: Kati J
authors.initials: KJ
authors.lastname: Buckingham
authors.affiliation: Department of Genome Sciences, University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Nickerson
authors.affiliation: Department of Genome Sciences, University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington.|Howard Hughes Medical Institute, University of Washington, Seattle, Washington.
authors.forename: Jay
authors.initials: J
authors.lastname: Shendure
authors.affiliation: Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D000328:Adult; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000235:genetics* / Q000503:physiopathology; D004286:Dolichols / Q000378:metabolism; D005123:Eye / Q000503:physiopathology*; D005260:Female; D006031:Glycosylation; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000503:physiopathology*; D014212:Tretinoin / Q000031:analogs & derivatives / Q000378:metabolism
chemical_list: D004286:Dolichols; D008565:Membrane Proteins; D014212:Tretinoin; C034534:3,7,11,15-tetramethyl-2,4,6,10,14-hexadecapentaenoic acid; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548469:SRD5A3 protein, human
keywords: SRD5A3; congenital disorder of glycosylation; kyphosis; optic atrophy; palmoplantar keratoderma