Structural basal ganglia disorders
Gene: NDUFA2Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least one variant reported as a homozygote, together with supporting in vitro evidenceCreated: 6 Mar 2017, 3:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
promoted 16/03/2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for NDUFA2 were set to 18513682
NDUFA2 was added to Structural basal ganglia disorderspanel. Sources: Literature
NDUFA2 was created by Manju