Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
17
10
2020
accepted:
30
03
2021
revised:
18
02
2021
pubmed:
21
5
2021
medline:
24
3
2022
entrez:
20
5
2021
Statut:
ppublish
Résumé
Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency in just two unrelated affected individuals with clinical features consistent with mitochondrial disease, including progressive encephalomyopathy and lethal infantile cardiomyopathy. We present clinical and genomic investigations in four individuals from an extended Palestinian family with clinical features consistent with an autosomal recessive mitochondrial complex II deficiency, in which our genomic studies identified a homozygous NM_003002.3:c.[205 G > A];[205 G > A];p.[(Glu69Lys)];[(Glu69Lys)] SDHD variant as the likely cause. Reviewing previously published cases, these findings consolidate disruption of SDHD function as a cause of mitochondrial complex II deficiency and further define the phenotypic spectrum associated with SDHD gene variants.
Identifiants
pubmed: 34012134
doi: 10.1038/s41431-021-00887-w
pii: 10.1038/s41431-021-00887-w
pmc: PMC8484551
doi:
Substances chimiques
SDHD protein, human
0
Electron Transport Complex II
EC 1.3.5.1
Succinate Dehydrogenase
EC 1.3.99.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1570-1576Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 220600/Z/20/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_18047
Pays : United Kingdom
Informations de copyright
© 2021. The Author(s).
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