| Chapter title |
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
|
|---|---|
| Chapter number | 478 |
| Book title |
JIMD Reports, Volume 26
|
| Published in |
JIMD Reports, July 2015
|
| DOI | 10.1007/8904_2015_478 |
| Pubmed ID | |
| Book ISBNs |
978-3-66-249832-3, 978-3-66-249833-0
|
| Authors |
Tuysuz, Beyhan, Pehlivan, Davut, Özkök, Ahmet, Jhangiani, Shalini, Yalcinkaya, Cengiz, Zeybek, Çiğdem Aktuğlu, Muzny, Donna Marie, Lupski, James R, Gibbs, Richard, Jaeken, Jaak, Beyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, Shalini Jhangiani, Cengiz Yalcinkaya, Çiğdem Aktuğlu Zeybek, Donna Marie Muzny, James R. Lupski, Richard Gibbs, Jaak Jaeken, Lupski, James R. |
| 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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|---|---|---|
| Unknown | 11 | 100% |
Demographic breakdown
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|---|---|---|
| Professor | 1 | 9% |
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| Other | 1 | 9% |
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| Unknown | 7 | 64% |
| Readers by discipline | Count | As % |
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| Agricultural and Biological Sciences | 1 | 9% |
| Unknown | 7 | 64% |