Mitochondrial disorder with complex I deficiency
Gene: NDUFA2
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13, 618235
only one patient reported in literature to date:
Case Report
The patient, a boy, was the second child of consanguineous Turkish parents (first cousins). His older sister was healthy. Pregnancy and delivery were uneventful. At the fifth day of life, hypertrophic cardiomyopathy was diagnosed. Development was retarded from birth, and at the age of four months, cerebral atrophy and hypoplasia of the corpus callosum were seen on MRI. Some weeks later, atrophy of the N. opticus was diagnosed. At 7.5 months, after a 2 day episode of vomiting and 2 weeks after a varicella infection, the patient suddenly developed severe acidosis, generalized tonic-clonic seizures, and coma. The patient did not gain consciousness again and needed artificial respiration for 43 days. Afterwards, respiration was unstable, and the patient had recurrent episodes of apnea and bradycardia, often accompanied by seizures, which increased in frequency. Finally, MRI showed demyelinization of cortico-spinal tracts and subacute necrotizing encephalomyelopathy as seen in Leigh syndrome. At eleven months, the patient died of cardiovascular arrest, after further episodes of apnea and asystolia.Created: 3 Feb 2016, 4:57 p.m.
onlyCreated: 3 Feb 2016, 4:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: NDUFA2 was added gene: NDUFA2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235