Haddad Salim, Salloum Elie, Silan Abdullah, Kalecioğlu Gazel, Abdulnour Maria, Haddad Sultaneh, Alasmar Diana, Alayash Mahmoud, Ghaleb Ahmed Noman
Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
Faculty of Medicine, University of Heidelberg, Heidelberg, Germany.
Oxf Med Case Reports. 2025 Apr 8;2025(4):omae166. doi: 10.1093/omcr/omae166. eCollection 2025 Apr.
Mutations in the NDUFV1 gene are associated with mitochondrial complex I deficiency and have been linked to various clinical conditions such as Leigh syndrome, severe infantile lactic acidosis, newborn cardiomyopathy, progressive leukoencephalopathy, and other encephalomyopathies. Genetic alterations revealed mitochondrial complex 1 deficiency, nuclear type 4 |AR: two compound heterozygous missense mutations in the NDUFV1 gene, c.640G < A (p.E214K) chr11:67377981 (Exon 1) and c.248C < T (p.S83L) chr11:67376115 (Exon 3) gene. Our case identifies a previously unknown pathogenic effect of the variant 'c.248C > T' in the NDUFV1 gene, observed in a 4-year-old boy with left-sided facial paralysis and balance impairment. While this discovery is significant, further exploration of NDUFV1 gene variants is essential for a comprehensive understanding and effective treatment strategies.
NDUFV1基因的突变与线粒体复合物I缺乏症相关，并与多种临床病症有关，如 Leigh 综合征、严重婴儿型乳酸酸中毒、新生儿心肌病、进行性白质脑病及其他脑肌病。基因检测显示线粒体复合物1缺乏，核型4|AR：NDUFV1基因存在两个复合杂合错义突变，c.640G ＜ A（p.E214K），位于chr11:67377981（外显子1）；c.248C ＜ T（p.S83L），位于chr11:67376115（外显子3）。我们的病例发现了NDUFV1基因中“c.248C ＞ T”变异体一种此前未知的致病作用，该变异体出现在一名患有左侧面瘫和平衡障碍的4岁男孩身上。虽然这一发现意义重大，但进一步探索NDUFV1基因变异体对于全面了解和制定有效的治疗策略至关重要。
