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Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA
- Source :
- Journal of human genetics. 66(8)
- Publication Year :
- 2020
-
Abstract
- Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by episodic involuntary movement attacks triggered by sudden movements, acceleration, or intention to move. We ascertained two Japanese familial cases with PKD. The proband is a 22-year-old woman who had noted sudden brief (30 s) of involuntary movements provoked by kinesigenic trigger such as starting to run, getting on a train, picking up a telephone receiver and so on at the age of 14. Interictal brain single photon emission computed tomography (SPECT) showed hyperperfusion in the left thalamus. A 46-year-old woman, the mother of the proband was also suffering from brief attacks triggered by starting to run in her high school days. On neurological examination, both showed no abnormality. Whole exome sequencing combined with rigorous filtering revealed two heterozygous nonsynonymous variants (NM_001447: c.8976GC [p.Gln2992His] in FAT2 and NM_015678: c.8596CT [p.Arg2866Trp] in NBEA). Real time quantitative PCR analysis of Nbea mRNA levels in the developing rat brain revealed peak at postnatal day 28 and decline at postnatal day 56. This result might match the most common clinical course of PKD from the point of view of the most common age at remission. NBEA has been reported to be responsible for neurodevelopmental disease accompanied by epilepsy. We concluded the variant in NBEA most likely to be responsible for our familial cases of PKD.
- Subjects :
- 0301 basic medicine
Proband
Adult
medicine.medical_specialty
Mutation, Missense
Vesicular Transport Proteins
Nerve Tissue Proteins
030105 genetics & heredity
Rats, Sprague-Dawley
03 medical and health sciences
Epilepsy
Young Adult
Internal medicine
Exome Sequencing
Genetics
medicine
Missense mutation
Animals
Humans
Genetic Predisposition to Disease
RNA, Messenger
Genetics (clinical)
business.industry
Clinical course
Paroxysmal dyskinesia
Middle Aged
Rat brain
medicine.disease
Pedigree
Rats
Dystonia
030104 developmental biology
Endocrinology
Mrna level
Female
business
Carrier Proteins
Familial Paroxysmal Kinesigenic Dyskinesia
Subjects
Details
- ISSN :
- 1435232X
- Volume :
- 66
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Journal of human genetics
- Accession number :
- edsair.doi.dedup.....faf1862eb2ac7e95e79b7146601d0358