Unknown

Dataset Information

0

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

Json Xml
altmetric image

Publications

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]

Similar Datasets

Unknown Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
| S-EPMC3800268 | biostudies-literature
Unknown Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
| S-EPMC1718926 | biostudies-other
Unknown Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
| S-EPMC4161961 | biostudies-literature
Unknown A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
| S-EPMC200991 | biostudies-literature
Unknown A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
| S-EPMC8206404 | biostudies-literature
Unknown TMEM165 deficiency causes a congenital disorder of glycosylation.
| S-EPMC3397274 | biostudies-literature
Unknown Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
| S-EPMC4996748 | biostudies-literature
Unknown Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease.
| S-EPMC5057071 | biostudies-literature
Unknown A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
| S-EPMC3722673 | biostudies-literature
Unknown Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
| S-EPMC6288200 | biostudies-literature