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

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.

SUBMITTER: Tuysuz B

PROVIDER: S-EPMC4864711 | biostudies-other | 2016

REPOSITORIES: biostudies-other

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

Tuysuz Beyhan B Pehlivan Davut D Özkök Ahmet A Jhangiani Shalini S Yalcinkaya Cengiz C Zeybek Çiğdem Aktuğlu ÇA Muzny Donna Marie DM Lupski James R JR Gibbs Richard R Jaeken Jaak J

JIMD reports 20150729

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 reporte ...[more]

PMID: 26219881

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