Early onset or syndromic epilepsy

Gene: MPDU1

Green List (high evidence)

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

• 11733556

I don't know

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.

Green List (high evidence)

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

• 11733556
• 11733564

Variants in this GENE are reported as part of current diagnostic practice