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.
Competing interests: None declared
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Acknowledgments
Supported in part by the US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI) Grant No.U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics. JRL has stock ownership in 23andMe, and Lasergen, Inc., is a paid consultant for Regeneron and is a coinventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis and clinical exome sequencing offered in the Baylor Miraca Medical Genetics Laboratory (http://www.bcm.edu/geneticlabs/).
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Communicated by: Eva Morava, MD PhD
Appendices
Take-Home Message
New features such as epilepsy, glaucoma, and corneal clouding were described in the patient with CDG1q.
Details of the Contributions of Individual Authors
BT was the leading physician who diagnosed the condition and to the writing of the manuscript.
DP: sequencing the sample and writing the manuscript.
AÖ, ÇZ, and CY were the physicians who followed up the patient during his admission to the pediatric ophthalmology, neurology, and metabolism departments.
JS: sequencing the sample.
RAG: sequencing the sample and organizing the project.
DMM: sequencing the sample.
JRL: sequencing the sample, organizing the project, and writing the manuscript.
JJ was revising the manuscript critically for important intellectual content and analysis of serum transferrin IEF level.
Conflict of Interest
BT, DP, ÇZ, CY, JS, RAG, DMM, JRL, and JJ declare that they have no conflict of interest.
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Informed consent was obtained from the parents of the patient.
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Tuysuz, B. et al. (2015). Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_478
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DOI: https://doi.org/10.1007/8904_2015_478
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