SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

Patricia G. Wheeler; Bobby G. Ng; Laura Sanford; V. Reid Sutton; Dennis W. Bartholomew; Matthew T. Pastore; Michael J. Bamshad; Martin Kircher; Kati J. Buckingham; Deborah A. Nickerson; Jay Shendure; Hudson H. Freeze

doi:10.1002/ajmg.a.37875

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

Patricia G. Wheeler^*, Bobby G. Ng, Laura Sanford, V. Reid Sutton, Dennis W. Bartholomew, Matthew T. Pastore, Michael J. Bamshad, Martin Kircher, Kati J. Buckingham, Deborah A. Nickerson, Jay Shendure, Hudson H. Freeze

^*Corresponding author for this work

Institute of Human Genetics

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.

Original language	English
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	12
Pages (from-to)	3165-3171
Number of pages	7
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.37875
Publication status	Published - 01.12.2016

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Wheeler, P. G., Ng, B. G., Sanford, L., Sutton, V. R., Bartholomew, D. W., Pastore, M. T., Bamshad, M. J., Kircher, M., Buckingham, K. J., Nickerson, D. A., Shendure, J., & Freeze, H. H. (2016). SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. American Journal of Medical Genetics, Part A, 170(12), 3165-3171. https://doi.org/10.1002/ajmg.a.37875

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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.",

author = "Wheeler, {Patricia G.} and Ng, {Bobby G.} and Laura Sanford and Sutton, {V. Reid} and Bartholomew, {Dennis W.} and Pastore, {Matthew T.} and Bamshad, {Michael J.} and Martin Kircher and Buckingham, {Kati J.} and Nickerson, {Deborah A.} and Jay Shendure and Freeze, {Hudson H.}",

note = "Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",

year = "2016",

month = dec,

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doi = "10.1002/ajmg.a.37875",

language = "English",

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journal = "American Journal of Medical Genetics, Part A",

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Wheeler, PG, Ng, BG, Sanford, L, Sutton, VR, Bartholomew, DW, Pastore, MT, Bamshad, MJ, Kircher, M, Buckingham, KJ, Nickerson, DA, Shendure, J & Freeze, HH 2016, 'SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features', American Journal of Medical Genetics, Part A, vol. 170, no. 12, pp. 3165-3171. https://doi.org/10.1002/ajmg.a.37875

TY - JOUR

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T2 - Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

AU - Wheeler, Patricia G.

AU - Ng, Bobby G.

AU - Sanford, Laura

AU - Sutton, V. Reid

AU - Bartholomew, Dennis W.

AU - Pastore, Matthew T.

AU - Bamshad, Michael J.

AU - Kircher, Martin

AU - Buckingham, Kati J.

AU - Nickerson, Deborah A.

AU - Shendure, Jay

AU - Freeze, Hudson H.

PY - 2016/12/1

Y1 - 2016/12/1

N2 - 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.

AB - 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.

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C2 - 27480077

AN - SCOPUS:84979998497

SN - 1552-4825

VL - 170

SP - 3165

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 12

ER -

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

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