Mitochondrial disease

Gene: UQCC2

Green List (high evidence)

Biallelic variants associated with mitochondrial complex III deficiency. 2 unrelated families and variant-specific functional evidence/segregation information provided.

PMID 24385928 Tucker et al 2013 - report a patient with homozygous splice site UQCC2 variants. Presented with severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction of consanguineous Lebanese ancestry. Supportive functional studies including using patient fibroblasts.

PMID: 28804536 Feichtinger et al 2017 - report a second unrelated patient of consanguineous Turkish ancestry with UQCC2 deficiency, a female infant born at 32 weeks gestation after a a pregnancy complicated by IUGR and oligohydramnios. Followed by a fulminant postnatal course including respiratory distress syndrome, developed epileptic seizures progressing to status epilepticus, profound lactic acidosis with elevated urinary pyruvate and death at day 33 of life. Homozygous missense UQCC2 variants identified leading to a severe reduction of UQCC2 protein in patient's muscle and fibroblast cells.

Created: 21 Mar 2022, 4:53 a.m. | Last Modified: 21 Mar 2022, 4:53 a.m.

Panel Version: 0.11665

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824

Publications

• 24385928
• 28804536

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