FAME4 YEATS2

SparseMot. → Pen.
Disease ID
FAME4
Gene ID
YEATS2
Clinical Links
GARD
16758
GeneReviews
NBK535148
MalaCard
EPL107
MedGen
767474
Mondo
0014055
OMIM
615127
Orphanet
86814
Bioinformatical Links
gnomAD
YEATS2
STRipy
YEATS2
TR-Atlas
TR38932
WebSTR hg38
5034940769177
WebSTR hg19
STR_1006941

Disease

FAME
Name
Familial adult myoclonic epilepsy 4
Inheritance
Autosomal dominant
Description
Cortical tremor, seizures with generalised motor (tonic-clonic) onset1 .
Prevalence
FAME overall is 1/35,000 in Japan. This repeat expansion is typically found in individuals of East Asian ancestry1 .
Age of OnsetYears10  33
Age of Onset Details
Typical: 20-252 ; Range: 10-333 .

Locus

hg19
chr3:183429976-183430010
hg38
chr3:183712188-183712222
t2t
chr3:186521657-186521706
Details
Novel insertion of ~1000 repeats observed to cause disease3 .
Mechanism
GoF?
RNA toxicity hypothesized3 .
Year
20193
Location in Gene
Intron 1
Gene Strand

Alleles

Ref. Motif
TTTTA
Pathogenic (ref.)
TTTCA
Pathogenic (gene)
ATTTC
Unknown (ref.)
TTTTT, TGTTA
Unknown (gene)
TTTTT, ATGTT
PathogenicUnits1,000  1,000

gnomAD

References

Direct supporting references for info on this page.

1
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese
The Lancet. Neurology · 2024-07-01
pmid:38876750
2
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
Patra,Yeetong, Surasawadee,Ausavarat, Roongroj,Bhidayasiri, Krisna,Piravej, Nath,Pasutharnchat, Tayard,Desudchit, Chaipat,Chunharas, Jakrin,Loplumlert, Chusak,Limotai, Kanya,Suphapeetiporn, Vorasuk,Shotelersuk
European journal of human genetics : EJHG · 2012-06-20
pmid:22713812
3
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Patra,Yeetong, Monnat,Pongpanich, Chalurmpon,Srichomthong, Adjima,Assawapitaksakul, Varote,Shotelersuk, Nithiphut,Tantirukdham, Chaipat,Chunharas, Kanya,Suphapeetiporn, Vorasuk,Shotelersuk
Brain : a journal of neurology · 2019-11-01
pmid:31539032

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

FAME4-associating YEATS2 knockdown impairs dopaminergic synaptic integrity and leads to seizure-like behaviours in Drosophila melanogaster.
Luca,Lo Piccolo, Ranchana,Yeewa, Sureena,Pohsa, Titaree,Yamsri, Daniel,Calovi, Jutarop,Phetcharaburanin, Manida,Suksawat, Thanaporn,Kulthawatsiri, Vorasuk,Shotelersuk, Salinee,Jantrapirom
Progress in neurobiology · 2023-12-20
pmid:38128822