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

 
TitlePhenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
Publication TypeJournal Article
Year of Publication2016
AuthorsTuysuz, B, Pehlivan, D, Özkök, A, Jhangiani, S, Yalcinkaya, C, Zeybek, ÇAktuğlu, Muzny, DM, Lupski, JR, Gibbs, RA, Jaeken, J
JournalJIMD Rep
Volume26
Pagination7-12
Date Published2016
ISSN2192-8304
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.

DOI10.1007/8904_2015_478
Alternate JournalJIMD Rep
PubMed ID26219881
PubMed Central IDPMC4864711
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States