Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Clinical Description
3.2. Genetic Findings
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patients | Patient 1 | Four Patients Reported in the Literature [8] |
---|---|---|
Age at last examination; gender | 4 y; female | 2 females (II-3 32 y; II-6 26 y, died), 2 males (II-4 34 y; II-13 8 y, died) |
Country of origin | Somalia | Pakistan |
Perinatal history | Normal | Low birth weight (2/4), poor growth (2/4), resuscitation (1/4) |
Neurological functioning | ||
Cognition | Language delay, learning difficulties | Language delay, learning difficulties (4/4) |
Motor skills | Delayed; regression followed by slight improvement | Delayed (3/4); regression from age 4 y (1/4) |
Pyramidal tract signs | Hyperreflexia, spasticity | Not reported |
Extrapyramidal signs | Dystonic positioning of the feet | Dystonia (3/4) |
Cerebellar signs | Ataxia, intention- and action tremor, broad-based gait | Ataxia (2/4), nystagmus (1/4) |
Lactate measurements | ||
CSF | Elevated 1 | Not reported |
Plasma | Elevated 2 | Congenital lactic acidosis (4/4) |
Cerebral MRI | ||
Cerebral hemispheres | Leukoencephalopathy, widespread with multiple cavities 3 | Scattered signal changes in deep white matter |
Corpus callosum | Atrophy, multiple cysts 4 | Not reported |
Brain stem and mesencephalon | Signal changes in pons and medulla oblongata 5 and periaqueductal grey matter 6 | Signal changes in pons and medulla oblongata |
Basal ganglia | Signal changes in substantia nigra and thalami 7 | Signal changes in medial thalami |
Cerebellum | Normal | Signal changes in cerebellum and right middle cerebellar peduncle |
Diagnosis | Leigh syndrome | Leigh syndrome (4/4) |
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Misceo, D.; Strømme, P.; Bitarafan, F.; Chawla, M.S.; Sheng, Y.; Bach de Courtade, S.M.; Eide, L.; Frengen, E. Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes 2024, 15, 500. https://doi.org/10.3390/genes15040500
Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E. Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes. 2024; 15(4):500. https://doi.org/10.3390/genes15040500
Chicago/Turabian StyleMisceo, Doriana, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, and Eirik Frengen. 2024. "Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome" Genes 15, no. 4: 500. https://doi.org/10.3390/genes15040500