Coincidence of two rare neurologic diseases detected by panel next-generation sequencing
Abstract
In a 12-year-old female with early-onset epilepsy (remission), development delay, hyperkinesias and moderate lactic acidosis two independent rare disorders with overlapping phenotypes were detected by panel exome sequencing and confirmed by Sanger sequencing: autosomal dominant infantile epileptic encephalopathy type 42 (previously reported CACNA1A mutation p.Ala713Thr de novo ) and autosomal recessive mitochondrial respiratory chain complex I deficiency (compound heterozygosity for previously reported NDUFB3 mutations p.Trp22Arg and p.Cly70* in NDUFB3 gene). Clinical heterogeneity of NDUFB3 -related disease is discussed.
Keywords
панельное экзомное секенирование,
младенческая эпилептическая энцефалопатия 42-го типа,
недостаточность комплекса I дыхательной цепи митохондрий,
ген CACNA1A,
ген NDUFB3,
infantile epileptic encephalopathy type 42,
mitochondrial respiratory chain complex I deficiency,
CACNA1A gene,
NDUFB3 gene,
panel exome sequencing
About the Authors
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. O. Shumarina
Genomed Ltd
Russian Federation
Russian Federation
A. V. Antonets
Genomed Ltd
Russian Federation
Russian Federation
I. G. Sermyagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. D. Krylova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Rudenskaya G.E., Shumarina A.O., Antonets A.V., Sermyagina I.G., Krylova T.D., Shchagina O.A. Coincidence of two rare neurologic diseases detected by panel next-generation sequencing. Medical Genetics. 2017;16(11):38-41. (In Russ.)
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