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JIMD Rep. 2016;26:7-12. doi: 10.1007/8904_2015_478. Epub 2015 Jul 29.

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

Author information

1
Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey. beyhan@istanbul.edu.tr.
2
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
3
Department of Ophthalmology, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey.
4
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
5
Department of Pediatric Neurology, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey.
6
Department of Metabolic Diseases, Cerrahpaşa Medical School, Istanbul University, Istanbul, 34098, Turkey.
7
Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.

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.

KEYWORDS:

Congenital glycosylation defect; Corneal clouding; Epilepsy; SRD5A3

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