title: Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
abstract: We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (West syndrome), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space. Serum transferrin isoelectrofocusing (IEF) showed a type 1 pattern. Whole-exome genotyping showed a previously reported homozygous nonsense mutation c.320G>A; p.Trp107X in SRD5A3. Epilepsy and glaucoma have been reported only once in the 19 described SRD5A3-congenital glycosylation defect patients, and corneal clouding not at all.
authors.affiliation: Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey. beyhan@istanbul.edu.tr.
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tuysuz
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Davut
authors.initials: D
authors.lastname: Pehlivan
authors.affiliation: Department of Ophthalmology, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Özkök
authors.affiliation: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Shalini
authors.initials: S
authors.lastname: Jhangiani
authors.affiliation: Department of Pediatric Neurology, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yalcinkaya
authors.affiliation: Department of Metabolic Diseases, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey.
authors.forename: Çiğdem Aktuğlu
authors.initials: ÇA
authors.lastname: Zeybek
authors.affiliation: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Donna Marie
authors.initials: DM
authors.lastname: Muzny
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.|Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Richard
authors.initials: R
authors.lastname: Gibbs
authors.affiliation: Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
keywords: Congenital glycosylation defect; Corneal clouding; Epilepsy; SRD5A3