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Published in:
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2015 | Online First | Chapter

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

Authors : Beyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, Shalini Jhangiani, Cengiz Yalcinkaya, Çiğdem Aktuğlu Zeybek, Donna Marie Muzny, James R. Lupski, Richard Gibbs, Jaak Jaeken

Publisher: Springer Berlin Heidelberg

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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.
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Literature
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Metadata
Title
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation
Authors
Beyhan Tuysuz
Davut Pehlivan
Ahmet Özkök
Shalini Jhangiani
Cengiz Yalcinkaya
Çiğdem Aktuğlu Zeybek
Donna Marie Muzny
James R. Lupski
Richard Gibbs
Jaak Jaeken
Copyright Year
2015
Publisher
Springer Berlin Heidelberg
DOI
https://doi.org/10.1007/8904_2015_478