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. 2016 Dec;170(12):3165-3171.
doi: 10.1002/ajmg.a.37875. Epub 2016 Aug 2.

SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation With Emphasis on Adult Onset Features

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Free PMC article

SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation With Emphasis on Adult Onset Features

Patricia G Wheeler et al. Am J Med Genet A. .
Free PMC article

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.

Keywords: SRD5A3; congenital disorder of glycosylation; kyphosis; optic atrophy; palmoplantar keratoderma.

Conflict of interest statement

none.

Figures

Figure 1
Figure 1
Facial view of Patient 1. Note wide set eyes and tendency to look upward.
Figure 2
Figure 2
Sacral tag in Patient 1.
Figure 3
Figure 3
Legs in Patient 1 showing ichthyosis and hyperpigmentation.
Figure 4
Figure 4
Full body view of Patient 2–note hyperpigmentation of knees and feet and tendency to look upward and inward.
Figure 5
Figure 5
Sacral tag in Patient 2.

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