Early onset or syndromic epilepsy
Gene: MFF
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
AR encephalopathy due to defective mitochondrial and peroxisomal fission 2 - characterised by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly and abnormal signls in the basal ganglia. More variable features include early-onset seizures. Shamseldin et al, 2012 - 2 brothers of consang Saudi parents - neither had seizures - hom nonsense mutation identified no functional work. Koch et al, 2016 - 3 patients including an Austrian boy, and 2 sibs with consang Turkish parents. All had onset of severe seizures within the first year of life, hom or compund het truncating mutations. Western blot analysis of patient fibroblasts showed normal levels of DRP1 but there was abnormal diffuse intracellular localisation of DRP1 , suggesting it is not properly recruited to mitochondrial fission nodes. Epilepsy in 2/3 reported families, with functional studies supporting pathogenicity.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
Encephalopathy due to defective mitochondrial and peroxisomal fission, 617086
Publications
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 20 Mar 2017, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Source Wessex and West Midlands GLH was added to MFF.
Source NHS GMS was added to MFF.
Sarah Leigh: Inclusion of this as a green g
MFF was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
MFF was created by Sarah Leigh