TY - JOUR
T1 - NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants
T2 - A Case Report and the Focused Review of Literature
AU - Kim, Jaewon
AU - Lee, Jaewoong
AU - Jang, Dae Hyun
N1 - Publisher Copyright:
Copyright © 2022 Kim, Lee and Jang.
PY - 2022/5/18
Y1 - 2022/5/18
N2 - Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems. The syndrome characteristically presents symmetric necrotizing lesions in the basal ganglia, brainstem, cerebellum, thalamus, and spinal cord on cranial magnetic resonance imaging. To date, more than 85 genes are known to be associated with Leigh syndrome. Here, we present a rare case of a child who developed Leigh syndrome due to pathogenic variants of NDUFAF6, which encodes an assembly factor of complex I, a respiratory chain subunit. A targeted next-generation sequencing analysis related to mitochondrial disease revealed a missense variant (NM_152416.4:c.371T > C; p.Ile124Thr) and a frameshift variant (NM_152416.4:c.233_242del; p.Leu78GInfs*10) inherited biparentally. The proband underwent physical therapy and nutrient cocktail therapy, but his physical impairment gradually worsened.
AB - Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems. The syndrome characteristically presents symmetric necrotizing lesions in the basal ganglia, brainstem, cerebellum, thalamus, and spinal cord on cranial magnetic resonance imaging. To date, more than 85 genes are known to be associated with Leigh syndrome. Here, we present a rare case of a child who developed Leigh syndrome due to pathogenic variants of NDUFAF6, which encodes an assembly factor of complex I, a respiratory chain subunit. A targeted next-generation sequencing analysis related to mitochondrial disease revealed a missense variant (NM_152416.4:c.371T > C; p.Ile124Thr) and a frameshift variant (NM_152416.4:c.233_242del; p.Leu78GInfs*10) inherited biparentally. The proband underwent physical therapy and nutrient cocktail therapy, but his physical impairment gradually worsened.
KW - complex I deficiency
KW - Leigh syndrome
KW - mitochondrial disease
KW - NDUFAF6
KW - neurodegenerative disorder
UR - http://www.scopus.com/inward/record.url?scp=85131699671&partnerID=8YFLogxK
U2 - 10.3389/fped.2022.812408
DO - 10.3389/fped.2022.812408
M3 - Article
AN - SCOPUS:85131699671
SN - 2296-2360
VL - 10
JO - Frontiers in Pediatrics
JF - Frontiers in Pediatrics
M1 - 812408
ER -