Early onset or syndromic epilepsy
Gene: MPDU1
AR congenital disorder of glycosylation type If. Schenk et al, 2011 - 3 unrelated patients - 2/3 had seizures (patient S and A) Both Sand A were of consang families and hom variants were detected, other patient was a compound het. Kranz et al, 2001 - patient had seizures and other features - hom point mutation.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type If, 609180
Publications
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza plus sufficient (>3) cases of seizures in CDG patients with MPDU1 variants from PMIDs:11733556, 11733564 and 28122681.Created: 3 Dec 2018, 1:38 p.m.
PMID:28122681 (Al Teneiji et al. 2017) report 15 patients, 1 of which had MPDU1-CDG. The patient had a homozygous c.218G>A (p.G73E) variant in MPDU1, and seizures were reported amongst the phenotypes (Table 2).Created: 3 Dec 2018, 1:35 p.m.
Schenk et al 2001 (PMID:11733564) report 3 unrelated patients with congenital disorder of glycosylation CDG-If, and variants in MPDU1. Patient S had severed intractable seizures from birth, which worsened up to his death age 10 months. Patient A had generalized seizures from age 15 months that responded well to valproate (listed as generalized febrile seizures in Table 1). Patient L had hypertonic attacks in infancy.Created: 3 Dec 2018, 1:22 p.m.
Kranz et al, 2001 (PMID:11733556) report a patient with a congenital disorder of glycosylation, with a homozygous variant in MPDU1 (221T>C, p.L74S). Seizures began age 5 months and frequently occured from then on.Created: 3 Dec 2018, 1:16 p.m.
Seizures are part of the phenotype of this CDG.Created: 16 Aug 2018, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type If, MIM#609180
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to MPDU1.
Source NHS GMS was added to MPDU1.
Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, 609180 to Congenital disorder of glycosylation, type If, 609180; seizures
Zornitza Stark: Seizures are part of the pheno
Gene: mpdu1 has been classified as Green List (High Evidence).
Gene: mpdu1 has been classified as Green List (High Evidence).
Publications for gene: MPDU1 were set to
Mode of inheritance for gene: MPDU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, 609180
Expert Review Amber was added to MPDU1. Panel: Genetic Epilepsy Syndromes
MPDU1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
MPDU1 was created by Sarah Leigh