Mutations in the NDUFA1 gene (Xq24) have been reported in affected males with Complex I deficiency in two families of Spanish ancestry. In one family, two maternal half-brothers were reported with Leigh syndrome presenting with psychomotor regression, clinical and neuroradiological signs of brainstem dysfunction, and basal ganglia involvement. In the other family, the affected male presented with hypotonia, developmental delay, and myoclonic epilepsy. In both families, mutations in the NDUFA1 gene were identified in the affected individuals as well as their unaffected mothers. Both mutations resulted in changes of conserved amino acids.
- OMIM #300078: NDUFA1 gene
- Fernandez-Moreira et al. (2007). Ann Neurol, 61:73-83
- Confirmation of a clinical diagnosis of NDUFA1-Related Mitochondrial Complex I Deficiency in an individual in whom sequence analysis was negative.
- Carrier testing in adults with a family history of NDUFA1-Related Mitochondrial Complex I Deficiency in whom sequence analysis was negative.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Sequence analysis of the NDUFA1 gene is available and is required before deletion/duplication analysis.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.
- X-Linked Intellectual Disability panels are available for 30, 60, and 90 genes.